Concept information
Terme préférentiel
enzymopathy
Concept générique
Concepts spécifiques
- abetalipoproteinemia
- acatalasemia
- acyl-CoA dehydrogenase deficiency
- adenosine deaminase deficiency
- alpha-1 antitrypsin deficiency
- aminoacid disorder
- apparent mineralocorticoid excess syndrome
- atrophia gyrata
- carbohydrate deficient glycoprotein syndrome
- carnitine O-palmitoyltransferase deficiency
- cerebrotendinous xanthomatosis
- congenital adrenal hyperplasia syndrome
- Crigler-Najjar disease
- diaphyseal dysplasia with anemia
- erythropoietic protoporphyria
- essential hyperlipoproteinemia
- fish-eye disease
- fructosemia
- fructosuria
- fucosidosis
- galactosemia
- glucose-6-phosphate dehydrogenase deficiency
- glycogenosis
- histidinemia
- hypercupremia
- hyperoxaluria
- hypophosphatasia
- hypoxanthine-guanine phosphoribosyltransferase deficiency
- isovaleric acidemia
- Lesch-Nyhan syndrome
- lipofuscinosis
- Lowe syndrome
- lysosomal storage disease
- Menkes syndrome
- mitochondrial disease
- mitochondrial myopathy
- mucolipidosis
- mucopolysaccharidosis
- nephrosialidosis
- neuronal ceroid lipofuscinosis
- oxalosis
- porphyria
- protoporphyria
- pyruvate kinase deficiency
- Refsum disease
- sphingolipidosis
- storage disease
- Wilson disease
- Wolman disease
Traductions
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français
URI
http://data.loterre.fr/ark:/67375/VH8-G37XWGTK-R
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