886 papers found
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Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
Carnitine-acylcarnitine translocase deficiency
Glycogen storage diseases: introduction
Phenylketonuria
Glycogenosis type I – von Gierke disease
The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)
Medium-chain acyl CoA dehydrogenase deficiency
Carnitine transporter deficiency
Pyruvate carboxylase deficiency
Isovaleric acidemia
Maple syrup urine disease (branched-chain oxoaciduria)
Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
Carnitine palmitoyl transferase I deficiency
Introduction to lactic acidemias
Lysinuric protein intolerance
Kearns–Sayre syndrome
Serine deficiencies
4-Hydroxybutyric aciduria
Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency
Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
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