Diko : fucosidose

fucosidose

Catégories

Nom, Nom féminin singulier, Gender:Fem, Number:Sing

Lemme

›

fucosidose

Informations lexicales

Morpho:min, Morpho:nospace

Informations sémantiques

[polit] , source:wiki

polarité

Variantes

›

Fucosidose

•

* Fuchs (syndrome de)

Définitions

Maladie autosomique récessive résultant d'un défaut d'Î± -fucosidase, se traduisant par une accumulation tissulaire d'oligosides et sphingolipides à fucose. [Dictionnaire médical de l'Académie de Médecine]

Liens externes

›

umls:C0016788

•

umls:C0268221

•

umls:C0268222

•

umls:C1257960

Associations d'idées

[F]

›

1000

•

médecine

•

fucosidase

•

alpha-L-fucosidase

•

oligoside

•

en:juvenile fucosidosis

•

en:fucosidosis type 1s

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déficit en alpha-L-fucosidase

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déficit en alpha-fucosidase

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en:mannosidosis

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fucose

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sphingolipidose

•

processus pathologique

•

maladies dues au déficit en mannosidase

•

sphingolipide

•

dysostosis multiplex

•

fucosidose infantile

•

en:historical aspects qualifier

•

en:in urine

•

en:fucosidase

•

en:mannosidase deficiency diseases

•

aspartylglucosaminurie

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déficits en mannosidase

•

fucosidose de type ii

•

fucosidose infantile fatale

•

maladies

•

fucosidose, forme juvénile

•

déficit en alpha-mannosidase

•

fucosidose de type 1

•

mannosidoses

•

fucosidose de l'enfant

•

déficit en alpha-l-fucosidase

•

en:fucosidase deficiency disease

•

mannosidose

•

fucosidose de l'adulte

•

fucosidose juvénile

•

fucosidose de type i

•

en:decreased plasma triglycerides

•

en:decreased or absent d-bifunctional protein activity and protein

•

en:decreased methylmalonyl-coa mutase activity

•

en:aldosterone level increased above normal

•

en:decreased fumarate hydratase activity

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:bicarbonaturia

•

en:argininosuccinic aciduria

•

en:decreased levels of plasma vwf antigen

•

en:absent axonal flare response to intradermal histamine injection

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:decreased serum complement factor h

•

en:absence of cd59 expression on red cells

•

en:abnormal phospholipid profile

•

en:abnormal liver enzymes, intermittent

•

en:abnormal eeg in 25% hospitalized patients

•

en:4-hydroxyphenylpyruvic aciduria

•

en:2-aminoadipic aciduria

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:lactose intolerance

•

en:carbohydrate-deficient glycoprotein syndrome

•

en:hyperornithinemia

•

en:congenital sucrase-isomaltase deficiency

•

en:decreased platelet derived growth factor

•

en:foam cells in bone marrow and renal glomeruli

•

en:decreased serum ferritin

•

en:factor viii deficiency

•

en:impaired creatine uptake in fibroblasts

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyposialylation of o-linked serum glycans

•

en:hypoglycemia, intermittent

•

en:hypercalciuria (in childhood)

•

en:hypercalcemia

•

en:high sweat sodium and chloride

•

en:high serum inosine levels

•

en:high plasma asparagine

•

en:hair bulb tyrosinase present

•

en:thin, dry skin

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:elevated urinary 3-methylglutaconate

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated serum levels of adenosine

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated liver function tests

•

en:elevated fasting glucose

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:dyskinetic ciliary motility

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:widened, scalloped acetabular roof

•

en:deficiency of threonine dehydratase

•

en:hepatomegaly

•

en:tyrosine loss

•

en:deficiency of galactose dehydrogenase

•

en:deficiency of cysteinyl-glycine dipeptidase

•

en:deficiency of amylopectin 6-glucanohydrolase

•

en:deficiency of aconitate hydratase

•

en:cryptophthalmos syndrome

•

en:congenital dyserythropoietic anemia, type ii

•

en:congenital disorder of glycosylation type ig

•

en:ataxia with vitamin e deficiency

•

en:alpha-1 antitrypsin deficiency

•

en:vitamin d deficiency

•

en:very low iga

•

en:variable defects of inner dynein arms

•

en:transient neonatal hypoglycemia (2p21del)

•

en:deficiency of l-lactate dehydrogenase (cytochrome)

•

en:thymic hormone decreased

•

en:serum folate normal

•

en:serum cortisol elevated

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:sce normal in heterozygotes

•

en:rhabdomyolysis in response to alcohol

•

en:prominent leukocytosis (30,000/ml)

•

en:predominance of the d-stereoisomer

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:no chromosome breakage

•

en:normal serum liver enzymes

•

en:normal prolyl 4-hydroxylase activity

•

en:deficiency of glucosyltransferase 1

•

en:deficiency of malate dehydrogenase

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en:fuca1, tyr211ter

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en:hartnup disease

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en:taxonomic

•

en:ethnologic

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en:tungland bellman syndrome

•

en:triglyceride storage disease with ichthyosis

•

en:thyroid peroxidase deficiency

•

en:thomas syndrome

•

en:spondylo-ocular syndrome

•

en:rna polymerase iii-related leukodystrophy

•

en:purine-nucleoside phosphorylase deficiency

•

en:persistent mullerian duct syndrome

•

en:microcephaly, amish type (disorder)

•

en:isaacs syndrome

•

en:glutamate formiminotransferase deficiency

•

en:deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)

•

en:ear, patella, short stature syndrome

•

en:dyskeratosis congenita, autosomal recessive

•

en:increased 18-ohb to aldosterone ratio

•

en:deficiency of ribulose-phosphate 3-epimerase

•

en:deficiency of pyrroline-2-carboxylate reductase

•

en:deficiency of polygalacturonase

•

en:deficiency of oxo-acid-lyase

•

en:deficiency of oxidase

•

en:deficiency of nucleotidyltransferase

•

en:deficiency of nucleosidase

•

en:deficiency of monodehydroascorbate reductase (nadh)

•

en:deficiency of maleylacetoacetate isomerase

•

en:impaired platelet aggregation

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:deficiency of sulfinoalanine decarboxylase

•

en:pyle metaphyseal dysplasia

•

en:pontocerebellar hypoplasia type 2

•

en:mitochondrial neurogastrointestinal encephalomyopathy syndrome

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:marles greenberg persaud syndrome

•

en:joubert syndrome

•

en:hurler syndrome

•

en:glycogen storage disease type x

•

en:glycogen storage disease type ii

•

en:familial renal iminoglycinuria

•

en:deficiency of tryptophan 5-monooxygenase

•

en:deficiency of serine carboxypeptidase

•

en:spondyloenchondrodysplasia with immune dysregulation

•

en:deficiency of nicotinate dehydrogenase

•

en:deficiency of myo-inositol oxygenase

•

en:deficiency of mevaldate reductase

•

en:deficiency of ketotetrose-phosphate aldolase

•

en:deficiency of isomerase

•

en:deficiency of enolase

•

en:deficiency of cystine reductase (nadh)

•

en:deficiency of aldehyde dehydrogenase (nad^+^)

•

en:deficiency of acetylesterase

•

en:deficiency of acetyl-coa acylase

•

en:deafness, progressive, with stapes fixation

•

en:congenital disorder of glycosylation type ic

•

en:retinal dystrophy in cerebroretinal lipidosis

•

en:thyroid dyshormonogenesis 4

•

en:cerebellar ataxia, cayman type

•

en:anti-iga antibodies commonly present

•

en:decreased dna excision repair

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:decreased activity of mitochondrial respiratory complexes

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

en:creatine kinase normal between episodes

•

en:chromosome 11q23.3 deletion

•

en:chromosomal rearrangement

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:cholesterol low

•

en:antineutrophil cytoplasmic antibody

•

en:alkaline phosphatase decreased

•

en:microbiological

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en:absent or abnormal thyroglobulin

•

en:absent ch50 activity in complete c4 deficiency

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:abnormal igfr1 function

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en:abnormal cardiolipin subspecies composition

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:lesch-nyhan syndrome

•

en:scoliosis

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en:anterior beaking of thoracic and lumbar vertebrae

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en:physiopathological

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en:chondrodysplasia punctata syndrome

•

en:autosomal recessive distal osteolysis syndrome

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

en:increased urinary neopterin

•

en:low to absent apo a-i (detroit 107680.0011)

•

en:low plasma methionine

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:long-chain ketonuria

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en:lactate high

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en:lack of ciliary motility

•

en:keratan sulfate excretion in urine that decreases with age

•

en:karyomegaly may be found in other visceral organs

•

en:normal parathyroid hormone (female)

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en:increased urinary taurine

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en:increased urinary organic acids (in some patients)

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en:increased urinary malic acid

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en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

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en:increased urinary l-glycerate

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en:increased urinary hga

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en:increased urinary excretion of cystine

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en:increased uric acid with exercise

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en:increased transferrin saturation (>60%)

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en:increased serum lactate in acute stage

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en:increased serum iduronate sulfatase

•

en:increased serum creatine kinase (1 family)

•

en:increased osmotic fragility

•

en:increased ferritin

•

en:increased csf lactate

•

en:increased csf homovanillic acid (hva)

•

en:markedly increased serum creatine kinase

•

en:normal collagen type i studies

•

en:allanson pantzar mcleod syndrome

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

en:3-methylglutaconic aciduria type 3

•

en:variable respiratory chain enzyme deficiency

•

en:tyrosine iodination defect

•

en:tryptophanuria

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:transferrin saturation increased

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en:tonofibril defect (cross-beta-protein structure)

•

en:thyroid dyshormonogenesis 5

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en:serum iron normal

•

en:secondary decreases in complex i and iv activity

•

en:rheumatoid factor negative

•

en:resistance to activated protein c due to factor v leiden

•

en:reduced beating amplitudes in cilia

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en:normal or mildly increased serum gamma-ggt (231950)

•

en:protein total decreased

•

en:primary immunoglobulin-related amyloidosis (al)

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en:premature separation of centromeric heterochromatin

•

en:pms show deficient oxidation of debrisoquine

•

en:platelet glycoprotein iiia deficiency

•

en:orotic acid crystalluria

•

en:organic aciduria

•

en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

•

en:no evidence of perinatal infection

•

en:normal to increased plasma glycine

•

en:normal sweat electrolytes

•

en:normal serum folate levels

•

en:normal plasma renin

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:neutral hyperaminoaciduria

•

en:myoglobinuria after exertion

•

en:serum cholesterol raised

•

en:serum aldosterone elevated

•

en:round, yellow-brown dha urine crystals

•

en:reticulocytosis

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

en:pyruvate-induced insulin secretion

•

en:proteinuria in those with cystic kidneys

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:partial deletion of long arm of chromosome 11 (11q23-qter)

•

en:partial deficiency of factor xiii (less common)

•

en:normal transferrin isoelectric profile

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

en:mild hyperammonemia

•

en:serum thyroxine may be decreased or normal

•

en:microsomal hmg-coa reductase decreased

•

en:methioninuria

•

en:median mean platelet volume (mpv) 18fl

•

en:marked hypobetalipoproteinemia

•

en:markedly reduced igg levels

•

en:low to very low hdl cholesterol

•

en:low serum igg and iga

•

en:low or undetectable c-peptide

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low acth level

•

en:low-molecular-weight proteinuria

•

en:liver transaminases normal to slightly increased

•

en:serum creatine kinase may be normal or increased

•

en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:deficiency of choline dehydrogenase

•

en:deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase

•

en:deficiency of phosphatidate phosphatase

•

en:deficiency of phenylpyruvate tautomerase

•

en:deficiency of omega peptidase

•

en:deficiency of nad^+^ synthase (glutamine-hydrolysing)

•

en:deficiency of n-acetylneuraminate lyase

•

en:deficiency of methenyltetrahydrofolate cyclohydrolase

•

en:deficiency of malate dehydrogenase (decarboxylating)

•

en:deficiency of lysine-trna ligase

•

en:deficiency of inosine nucleosidase

•

en:deficiency of hydroxymethylglutaryl-coa synthase

•

en:deficiency of dihydrouracil dehydrogenase (nad^+^)

•

en:deficiency of beta-fructofuranosidase

•

en:subtelomeric deletion of long arm of chromosome 3 (3q29)

•

en:deficiency of aldehyde reductase

•

en:deficiency of acetate-coa ligase

•

en:deficiency of 3'-nucleotidase

•

en:cytochrome p450 enzyme deficiency

•

en:cutis laxa, autosomal recessive

•

en:crisponi syndrome

•

en:congenital cataracts, facial dysmorphism, and neuropathy

•

en:biotinidase deficiency

•

en:becker generalized myotonia

•

en:very low density lipoprotein increased

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:transcobalamin ii deficiency

•

en:iodide organification defect

•

en:intermittent ethylmalonic aciduria

•

en:deficiency of ribonuclease

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:hyperlysinemia

•

en:hyperlipoproteinemia type i

•

en:hyperlactemia

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:hydrocortisone decreased

•

en:homocitrullinuria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hepatic gamma-cystathionase deficiency

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hematuria (less common)

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:hypoxia

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated uric acid on urinalysis (in some patients)

•

en:elevated sepiapterin in csf

•

en:elevated pregnenolone

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated levels of vitamin b12

•

en:elevated lathosterol

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

en:hypertryptophanemia

•

en:igg, decreased

•

en:increased urinary sulfatide excretion

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased urinary succinic acid

•

en:increased urinary methylcitrate

•

en:increased total bilirubin may occur

•

en:increased tissue long-chain fatty acids

•

en:increased serum triglycerides (in some patients)

•

en:increased serum serotonin in 25%

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate, particularly after exercise

•

en:increased serum deoxyuridine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum bile acids

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased serum, urinary, and csf lysine

•

en:immotile cilia

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma vldl, ldl

•

en:increased plasma proinsulin

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased neopterin in urine and csf

•

en:increased lactate in spinal fluid

•

en:increased ige level

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:increased cholesterol

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:incomplete n-glycosylation of cellular proteins

•

en:impaired mitochondrial translation

•

en:deficiency of phosphoserine phosphatase

•

en:deficiency of thrombin

•

en:myoglobinuria after exertion (in some patients)

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 11-deoxycorticosterone

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:hypokalemia occurs during paralytic attacks

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperlipoproteinemia type iib

•

en:hyperkalemia during attacks

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypercholesterolemia (10%)

•

en:high ft3/ft4 ratio

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:glycogen storage disease type vi

•

en:increased csf interferon alpha

•

en:glucosuria, mild, intermittent

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:elevated total iron-binding capacity

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma alloisoleucine

•

en:elevated liver enzymes

•

en:elevated il6

•

en:elevated fasting triglycerides

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:elevated creatine kinase (in some patients)

•

en:elevated alkaline phosphatase (in one patient)

•

en:increased biopterin in urine and csf

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:deficiency or absence of cytochrome b(-245)

•

en:isovalerylglycinuria

•

en:myoglobinuria

•

en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes

•

en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)

•

en:mildly elevated transaminases

•

en:methylmalonic acidemia

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

en:metabolic acidosis

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low rai (radioactive iodine) uptake

•

en:lactic acidemia (2p21del)

•

en:lactate pyruvate ratio normal

•

en:lack of excessive parenchymal iron storage

•

en:isochromosome 12p (i(12p))

•

en:increased fractional excretion of uric acid

•

en:iodine depletion

•

en:intermediate level of cellular sensitivity to uv light

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary citric acid cycle intermediates

•

en:increased serum lactate

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:increased serum alpha-mannosidase

•

en:increased renal tubular phosphate reabsorption

•

en:increased plasma renin activity

•

en:increased phytanic acid in body tissues and fluids

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:elevated 8(9)-cholestenol

•

en:decreased serum trypsinogen

•

en:gamma-cystathionase deficiency

•

en:aspects of radionuclide imaging

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes during illness

•

en:4-hydroxyphenyllactic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:2-oxoadipic aciduria

•

en:pseudo-hurler polydystrophy

•

en:arginosuccinate lyase deficiency

•

en:mental retardation

•

en:fuca1, 1-bp del, ex3

•

en:neonatal research network terminology

•

en:therapeutic aspects

•

en:complication aspects

•

en:xeroderma pigmentosum

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:triosephosphate isomerase deficiency

•

en:sudden infant death with dysgenesis of the testes syndrome

•

en:sialic storage disease

•

en:richards-rundle syndrome

•

en:prader-willi habitus, osteopenia, and camptodactyly

•

en:lissencephaly syndrome, norman-roberts type

•

en:lipoid proteinosis of urbach and wiethe

•

en:jankovic rivera syndrome

•

en:isobutyryl-coa dehydrogenase deficiency

•

en:hereditary adrenal unresponsiveness to corticotropin

•

en:hemolytic anemia due to pyruvate kinase deficiency

•

en:genetic disorder of lipid storage

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:agammaglobulinemia

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased phytanic acid oxidase activity

•

en:decreased or normal plasma insulin

•

en:decreased neopterin and biopterin in csf

•

en:decreased mitochondrial complex v assembly

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased insulin receptor binding

•

en:decreased free t(3)/free t(4)

•

en:decreased fbp1 enzyme activity

•

en:decreased eno3 activity

•

en:decreased decr enzyme activity

•

en:decreased clot retraction

•

en:decreased carnitine in serum, muscle, heart, and liver

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:decreased blood levels of cationic amino acids

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv

•

en:decreased activity of complement factor d

•

en:cystathioninemia

•

en:coombs positive hemolytic anemia

•

en:chylomicronemia, refractory fasting

•

en:chronic hypercapnia

•

en:broad tissue deposition of amylopectin-like material

•

en:bilirubin conjugated increased

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:antiribonuclear protein positive

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:elevated ast and ldh, especially infantile-onset

•

en:decreased galactokinase activity

•

en:spondyloepiphyseal dysplasia tarda, toledo type

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

en:absence of outer dynein arms

•

en:abnormal urinary oligosaccharides

•

en:abnormal nuclear morphology

•

en:5-hiaa csf may be normal or decreased

•

en:hunter syndrome

•

en:pyruvate kinase deficiency

•

en:hearing impairment

•

en:fuca1, 2-ex del

•

en:cervical platyspondyly

•

en:etiology aspects

•

en:epidemiologic

•

en:spastic ataxia, charlevoix-saguenay type

•

en:antithrombin iii deficiency

•

en:pulmonary lipid storage disease

•

en:pseudohypoaldosteronism, type 1, recessive form

•

en:peters-plus syndrome

•

en:papillon-lefevre syndrome

•

en:northern epilepsy syndrome

•

en:neurodegeneration with brain iron accumulation 4

•

en:neuroacanthocytosis

•

en:mucopolysaccharidosis type ix

•

en:intestinal epithelial dysplasia

•

en:hypokalemia, familial

•

en:fructose-1,6-bisphosphatase deficiency

•

en:fibular hypoplasia and complex brachydactyly

•

en:anti-ds dna antibody

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:deficiency of tyrosine-trna ligase

•

en:decreased or absent serum ceruloplasmin

•

en:deficiency of saposins a, b, c, and d

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:deficiency of fat-soluble vitamins

•

en:defective bile acid metabolism

•

en:decreased udp-glcnac

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma serine

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased plasma arginine

•

en:decreased nk cells (in some patients)

•

en:blood glucose normal

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)

•

en:decreased metabolism of thiopurine drugs

•

en:decreased levels of certain coagulation factors

•

en:decreased grhpr activity

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of galactocerebrosidase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

en:bone marrow hypoplasia (in some patients)

•

en:dysostosis multiplex group

•

en:deficiency of steroid delta-isomerase

•

en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

•

en:normal serum creatine kinase

•

en:serum lactate is usually normal

•

en:serum cortisol decreased

•

en:serum c-reactive protein may be increased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:pt normal

•

en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)

•

en:prolinuria

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:no hyperuricemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal serum parathyroid hormone (pth)

•

en:normal serum lipoprotein levels

•

en:normal plasma total homocysteine

•

en:serum transferrin glycosylation is normal

•

en:normal or increased serum phosphate

•

en:normal levels of complement factor h, but impaired function

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:neutrophilia, both basal and during infections

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:myelin basic protein measurement, spinal fluid

•

en:monomeric igm

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:mitochondrial complex i deficiency in muscle

•

en:mild elevation of cholesterol

•

en:mildly elevated acth

•

en:serum testosterone level normal

•

en:translocation of chromosomes 9 and 13

•

en:deficiency of sarcosine oxidase

•

en:deficiency of dimethylallyltranstransferase

•

en:deficiency of pyrophosphotransferase

•

en:deficiency of prolyl dipeptidase

•

en:deficiency of phospholipase c

•

en:deficiency of phosphoadenylate 3'-nucleotidase

•

en:deficiency of nucleotide pyrophosphatase

•

en:deficiency of l-lactate dehydrogenase

•

en:deficiency of inorganic pyrophosphatase

•

en:deficiency of hydroxymethylglutaryl-coa hydrolase

•

en:deficiency of histidinol dehydrogenase

•

en:deficiency of glutathione reductase (nad(p)h)

•

en:deficiency of gluconate 2-dehydrogenase

•

en:deficiency of diphosphoric monoester hydrolase

•

en:deficiency of dextranase

•

en:tyrosinemia

•

en:deficiency of choline esterase ii (unspecific)

•

en:deficiency of carboxypeptidase a

•

en:deficiency of carbon-oxygen lyase

•

en:deficiency of 3beta-hydroxysteroid dehydrogenase

•

en:craniodiaphyseal dysplasia

•

en:butyryl-coa dehydrogenase deficiency

•

en:amelogenesis imperfecta - recessive - rough

•

en:very low igg

•

en:vacuolated lymphocytes

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:dehydration

•

en:elevated 3-methylcitric acid

•

en:marked elevation of serum c-reactive protein level (crp 123260)

•

en:3-methylglutaconic aciduria type 1

•

en:deficiency of dipeptidylpeptide hydrolase

•

en:deficiency of choline esterase i

•

en:deficiency of bisphosphoglycerate mutase

•

en:deficiency of alpha-aminoacylpeptide hydrolase

•

en:deficiency of acetyl-coa deacylase

•

en:deficiency of a-ase

•

en:deafness, sensorineural, and male infertility

•

en:cytochrome-c oxidase deficiency

•

en:citrin deficiency

•

en:brachydactyly syndrome type b

•

en:autosomal recessive muscular dystrophy with limb girdle distribution

•

en:arylsulfatase deficiency without mld

•

en:widespread interstitial fibrosis (visceral organs)

•

en:deficiency of glutamate decarboxylase

•

en:very low igm

•

en:urine osmolarity decreased

•

en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

en:translocation or deletions involving 7p13 (severe case reports)

•

en:subtelomeric deletion of chromosome 16p

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:smooth muscle antibodies positive

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum cholesterol normal

•

en:serum albumin low result

•

en:reduced platelet glycoprotein ib complex

•

en:deficiency of estradiol 6beta-monooxygenase

•

en:deficiency of glutaminase

•

en:protein c decreased

•

en:phenylketonuria ii

•

mannosidose alpha b lysosomiale

•

mannosidose alpha b lysosomale

•

en:seizure

•

en:rounded and heavy facial features

•

en:peripheral nervous system disorder

•

en:anhidrosis

•

en:roentgenographic

•

en:tyrosinemia, type iii

•

en:spondyloenchondrodysplasia

•

en:spinocerebellar ataxia, autosomal recessive 2

•

en:sonoda syndrome

•

en:sialic acid storage disease, finnish type (disorder)

•

en:leukotriene c4 synthase deficiency

•

en:deficiency of long-chain-fatty-acid-coa ligase

•

en:kuskokwim disease

•

en:hyperprolinemia type 2

•

en:homocarnosinosis

•

en:glycogen storage disease type i

•

en:fryns macrocephaly

•

en:enterokinase deficiency

•

en:deficiency of sulfite reductase

•

en:deficiency of retinyl-palmitate esterase

•

en:deficiency of phosphoribosylamine-glycine ligase

•

en:deficiency of phosphoacetylglucosamine mutase

•

en:deficiency of nucleotidase

•

en:deficiency of nad(p)^+^ transhydrogenase

•

en:reduced erythrocyte gs activity

•

en:platelet aggregation decreased

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:hypocalcemia (male)

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase, mild

•

en:increased pyruvate in serum and csf

•

en:increased plasma creatine

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased iga level

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased di- and asialo-transferrin

•

en:increased csf protein during acute illness

•

en:increased csf immunoglobulin levels

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:inappropriately increased urine osmolality

•

en:hyperuricuria

•

en:increased serum triiodothyronine (t3)

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:high sweat electrolyte

•

en:high serum osmolality

•

en:hematuria

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:epstein-barr viraemia

•

en:eosinophilia

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated serum uric acid concentrations

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum long-chain fatty acids

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:increased serum fgf23

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

en:plasma triglycerides increased

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

en:plasma catecholamines decreased

•

en:peroxisome deficiency

•

en:partial terminal deletion of short arm of chromosome 1 (1p36)

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum plasmalogen

•

en:normal serum complement levels

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal liver histology

•

en:normal igm levels

•

en:normal extrarenal responses to ddavp administration

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:mild elevation of transaminases

•

en:low serum ceruloplasmin

•

en:low plasma hdl

•

en:low plasma citrulline

•

en:low maximal oxygen uptake on exercise testing

•

en:low growth hormone levels

•

en:low fasting glucose (in some patients)

•

en:long-chain dicarboxylic aciduria

•

en:ketonemia

•

en:keratan sulfaturia in some patients

•

en:karyotype analysis normal finding

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased urinary prostaglandin e2

•

en:medium chain dicarboxylic aciduria

•

en:low ldl cholesterol

•

en:decreased hepatic gaba transaminase activity

•

en:reduced ige levels

•

en:beta-hydroxyisobutyryl coa deacylase deficiency

•

en:baller-gerold syndrome

•

en:ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

•

en:adult g6pd deficiency of leukocytes syndrome

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:triglyceride decreased

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:serum testosterone decreased

•

en:serum osmolality decreased

•

en:serum calcium normal

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced erythrocyte adenosine deaminase activity

•

en:childhood hypophosphatasia (disorder)

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:prolonged prothrombin and partial thromboplastin times

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

en:oligospermia or azoospermia

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

en:normal or decreased serum potassium

•

en:normal iga levels

•

en:neonatal hypocalcemia

•

en:myoglobinuria (reported in 1 patient)

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:mild eosinophilia may occur

•

en:median mean platelet volume (mpv) 12.5fl

•

en:charcot-marie-tooth disease type 4

•

en:congenital alpha-2-antiplasmin deficiency

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:deficiency of glycerophosphocholine phosphodiesterase

•

en:deficiency of tannase

•

en:deficiency of ribosomal cathepsin

•

en:deficiency of protease

•

en:deficiency of phospholipase d

•

en:deficiency of pectin methylesterase

•

en:deficiency of naph cytochrome-c>2< reductase

•

en:deficiency of mannose-6-phosphate isomerase

•

en:deficiency of lysophospholipase

•

en:deficiency of lysine racemase

•

en:deficiency of lecithinase d

•

en:deficiency of isocitrate dehydrogenase (nad^+^)

•

en:deficiency of halogenase

•

en:deficiency of glutathione-homocystine transhydrogenase

•

en:deficiency of 3-hydroxybutyrate dehydrogenase

•

en:deficiency of gluconolactonase

•

en:deficiency of enoyl-coa hydratase

•

en:deficiency of cytidine deaminase

•

en:deficiency of coenzyme-a transferase

•

en:deficiency of chymotrypsin a and b

•

en:deficiency of chymosin

•

en:deficiency of carboxylic ester hydrolase

•

en:deficiency of aspartate carbamoyltransferase

•

en:deficiency of amidase

•

en:deficiency of allantoicase

•

en:deficiency of aldonolactonase

•

en:deficiency of 4-hydroxy-2-oxoglutarate aldolase

•

en:low serum alkaline phosphatase in heterozygotes

•

en:ketoses, metabolic

•

en:geroderma osteodysplastica

•

en:deletion of chromosome 18p11.2

•

en:hemophilia b

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:frequent deletions of chromosome 9 in melanoma

•

en:female carriers show markedly skewed x inactivation

•

en:ethylmalonic aciduria

•

en:elevated urinary hyaluronic acid levels

•

en:elevated sweat chloride (some)

•

en:elevated serum acid phosphatase

•

en:elevated progesterone

•

en:dermatan sulfate excretion in urine

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:defect in oxidative phosphorylation

•

en:hereditary xanthinuria

•

en:decreased serum levels of maoa products

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased s-ado:saicar ratio

•

en:decreased red cell pyruvate kinase activity

•

en:decreased or normal serum factor b

•

en:decreased or absent ciliary motility

•

en:decreased methylcobalamin (mecbl)

•

en:decreased ldl cholesterol

•

en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf

•

en:hereditary factor x deficiency

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:iron deficiency

•

en:increased plasma long-chain acylcarnitines

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased very-long chain fatty acids

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary magnesium

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:increased urinary cortisol/cortisone ratio

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum creatine kinase (less common)

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma levels of bile acid intermediates

•

en:high urinary copper

•

en:increased il18

•

en:increased il-6

•

en:increased csf histidine

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:hypoproteinemia

•

en:hyponatremia in infancy

•

en:hypocalcemia, transient

•

en:hypobetalipoproteinemias

•

en:hyperthreoninuria

•

en:hypermethioninemia, progressive

•

en:hyperchloremia (mean 111 mm)

•

en:hyperbilirubinemia

•

en:fatty acid hydroxylase-associated neurodegeneration

•

en:hepatolenticular degeneration

•

en:low csf creatine

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:green urine

•

en:glycoamino aciduria

•

en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

•

en:galactosuria

•

en:fumarase deficiency

•

en:euvolemia

•

en:elevated white blood cell cystine

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma insulin

•

en:elevated plasma cholestanol

•

en:elevated il1-beta

•

en:heparin cofactor ii deficiency (disorder)

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:elevated ferritin l subunit

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated crp

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:echocardiogram abnormal

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:deficiency of creatine phosphate in brain

•

en:defect in retrograde intraflagellar transport in cilia

•

en:defect in chylomicron secretion

•

en:defective glcnac-pi synthesis

•

en:hemizygous deletion at 7q11.23

•

en:heteroplasmic partial duplication of mtdna

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:low-to-normal platelet count

•

en:lactic acidemia

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:incresased urinary pyruvate

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary 2-butanone

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum lactate during metabolic crisis

•

en:increased serum creatine kinase in acute stage

•

en:high nonceruloplasmin-bound serum copper

•

en:increased plasma phospholipids

•

en:increased csf threonine

•

en:increased cellular sensitivity to uv light

•

en:increased bone serum acid phosphatase

•

en:increased biliverdin in bodily fluids

•

en:hypocalcemia

•

en:hypertriglyceridemia

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperchloremia (mean 109 mm)

•

en:hyperalphalipoproteinemia

•

en:homocysteinemia (in some patients)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:decreased whole blood serotonin

•

en:decreased triiodothyronine level

•

en:histidinemia

•

en:fuca1, 1-bp del, ex5

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:fabry disease

•

en:pycnodysostosis

•

en:glycogen storage disease

•

en:pelizaeus-merzbacher disease

•

en:hermansky-pudlak syndrome

•

en:other disorders of glycoprotein metabolism

•

en:defects in glycoprotein degradation

•

en:sphingolipidosis

•

en:carbamoyl-phosphate synthetase i deficiency

•

en:wide nose

•

en:splenomegaly

•

en:genetic aspects

•

en:abnormal liver enzymes (1 patient)

•

en:enzymology

•

en:walker-warburg syndrome

•

en:uv-sensitive syndrome

•

en:sulfite oxidase deficiency

•

en:pyruvate dehydrogenase deficiency

•

en:prolonged electroretinal response suppression

•

en:neurodegeneration due to cerebral folate transport deficiency

•

en:mitochondrial dna depletion syndrome 2 (myopathic type)

•

en:megalencephalic leukoencephalopathy with subcortical cysts

•

en:laurence-moon syndrome

•

en:hyperphosphatasia with mental retardation

•

en:hyperimmunoglobulin e syndrome

•

en:abacterial leukocyturia

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum iga

•

en:decreased serum factor h (atypical hus)

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma glycine

•

en:decreased numbers of t regulatory cells

•

en:decreased iga, igg, igm

•

en:decreased glycerol kinase activity

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:decreased acid beta galactosidase protein and activity

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:chronic hypoxemia

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:borderline elevated low-density lipoprotein

•

en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:anti-factor viii positive

•

en:anomalies of cholesterol levels

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

•

en:electron microscopy of foam cells shows lamellar inclusions

◀

Thèmes/domaines

›

médecine

•

maladies

•

Médecine

•

chimie

Synonymes et quasi-synonymes

›

Fuchs (syndrome de)

•

déficit en alpha-L-fucosidase

•

déficit en alpha-l-fucosidase

•

déficit en alpha-fucosidase

•

syndrome de Fuchs

•

endothélio-Descemétite de Fuchs

•

fugue

•

fucoside

•

fucosidase

•

fucose

•

fuchsine

•

en:fucose

•

en:fucosidase

•

syndrome de barré et liéou

•

syndrome sympathique cervical postérieur

Traduction de fucosidose

›

en:fucosidosis

Génériques

[F] [H]

›

maladie

•

maladie

(médecine)

•

processus pathologique

•

processus

•

pathologie

•

en:disease or syndrome

•

affection

•

syndrome

•

Fuchs

Spécifiques

›

fucosidose de l'adulte

•

fucosidose de type 2

•

fucosidose de l'enfant

•

fucosidose de type 1

•

fucosidose juvénile

•

fucosidose infantile

•

fucosidose infantile fatale

•

fucosidose de type i

•

fucosidose de type ii

Locutions/termes composés

›

fucosidose de type 2

•

fucosidose de type i

•

fucosidose de l'adulte

•

fucosidose de l'enfant

•

fucosidose de type 1

•

fucosidose de type ii

•

fucosidose juvénile

•

fucosidose infantile fatale

Lieux où peut se trouver/dérouler fucosidose

›

en:bone

•

Sentiments/émotions associés à fucosidose

›

angoisse

•

crainte

•

peur

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=1834472 • caches: c1=46 c2=1118 c3=4

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