Amino acid synthesis deficiencies

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1775-1783

  De Koning, T J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876849391     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00047-2     Document Type: Chapter

References (22)

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2. Baumgartner M.R., Rabier D., Nassogne M.C., et al. Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and praline. Eur J Pediatr 2005, 164:31-36.
3. Bicknell L.S., Pitt J., Aftimos S., et al. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet 2008, 16:1176-1186.
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