485 papers found
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Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria
Argininosuccinic aciduria
Introduction to the disorders of purine and pyrimidine metabolism
Introduction to hyperammonemia and disorders of the urea cycle
Fructose-1,6-diphosphatase deficiency
Adrenoleukodystrophy
Homocystinuria
Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency
Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency
Phosphoribosylpyrophosphate synthetase and its abnormalities
Adenine phosphoribosyltransferase (APRT) deficiency
Multiple carboxylase deficiency/biotinidase deficiency
Methylmalonic acidemia
Biogenic amines
Argininemia
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
Deficiency of the pyruvate dehydrogenase complex
α1-Antitrypsin deficiency
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