486 papers found
Refreshing results…
α1-Antitrypsin deficiency
Lesch–Nyhan disease and variants
Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency
Carnitine palmitoyl transferase II deficiency, lethal neonatal
The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency
Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
Adenosine deaminase deficiency
Glutaric aciduria (type I)
Very long-chain acyl-CoA dehydrogenase deficiency
Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria
Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency
Myoclonic epilepsy and ragged red fiber (MERRF) disease
Carbamylphosphate synthetase deficiency
Alkaptonuria
Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS)
Neurodegeneration, ataxia, and retinitis pigmentosa (NARP)
Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
3-Hydroxy-3-methylglutarylCoA lyase deficiency
Nonketotic hyperglycinemia
Pearson syndrome
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