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American Academy of Orthopaedic Surgeons

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Inborn errors of metabolism

Inborn errors of metabolism

difetti congeniti del metabolismo e sindromi distrofiche

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5-Oxoprolinuria
Acidemia, Isovaleric
Acidemia, Methylmalonic
Acidemia, Propionic
Adrenoleukodystrophy
Alcaptonuria
Alpha-1-Antitrypsin Defìciency
Andersen Disease
Arginase Defìcency
Agininosuccinic Aciduria
Blue Diaper Syndrome
Carbamyl Phosphate Synthetase Deficency
Carnitine Defìcency Syndromes, Hereditary
Carnosinemia
Citrullinemia
Cystinosis
Fabry Disease
Farber Disease
Forbes Disease
Fructose Intollerance, Hereditary
Fructosuria
Galactosemia, Classic
Gaucher Disease
Glutaricaciduria I
Glutaricaciduria II
Glycogen Storage Disease VII
Hartnup Disease
Hers Disease
Histidinemia
Homocystinuria
Hunter Sindrome
Hurler Sindrome
Hyperchylomicronemia
Hyperoxaluria, Primary
Hyperprolinemia Type I
Hyperprolinemia Type II
Lactose Intolerance
Leigh Disease
Lesch-Nyhan Syndrome
Lowe Syndrome
Mannosidosis
Maple Syrup Urine Disease
Maroteaux-Lamy Syndrome
McArdle Disease
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Menkes Disease
Morquio Syndrome
Mucolipidosis II
Mucolipidosis III

Mucolipidosis IV
Mucopolysacchridosis
Multiple Carboxylase Deficiency
Multiple Sulfatase Deficiency
N-Acetyl Glutamate Synthetase
Deficiency
Niemann-Pick Disease
Nonketotic Hyperglycinemia
Ornithine Transcarbamylase Deficiency
Phenylketonuria
Pompe Disease
Porphyria
Porphyria, Acute Intermittent
Porphyria, Congenital Erythropoietic
Porphyria, Cutanea Tarda
Porphyria, Erythropoietic Protopophyria
Porphyria, Hereditary Coproporphyria
Porphyria, Variegate
Pseudogout
Pyruvate Kinase Deficiency
Refsum Syndrome
Sandhoff Disease
Sanfilippo Syndrome
Sialadenitis
Sialidosis
Sly Syndrome
Tangier Disease
Tay-Sachs Disease
Tetrahydrobiopeterin Deficiencies
Tyrosinemia I
Valinemia
Vitamin E Deficiency von Gierke Disease
Wilson Disease
Zellweger Syndrome

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