Amino acid synthesis deficiencies
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Publisher
Elsevier
Reference22 articles.
1. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase;Baumgartner;Hum Mol Genet,2000
2. Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and praline;Baumgartner;Eur J Pediatr,2005
3. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome;Bicknell;Eur J Hum Genet,2008
4. Beneficial effects of L-serine and glycine in the manegement of seizures in 3-phosphoglycerate dehydrogenase deficiency;de Koning;Ann Neurol,1998
5. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency;de Koning;Neuropediatrics,2000
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