Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)-Reference-Cited by-同舟云学术

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

Published:2016 Issue: Volume: Page:99-107
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Balasubramaniam Shanti,Lewis B.,Mock D. M.,Said H. M.,Tarailo-Graovac M.,Mattman A.,van Karnebeek C. D.,Thorburn D. R.,Rodenburg R. J.,Christodoulou J.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_559

Reference42 articles.

1. Atkuri KR, Cowan TM, Kwan T, Ng A, Herzenberg LA, Enns GM (2009) Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. Proc Natl Acad Sci U S A 106(10):3941–3945

2. Baertling F, Rodenburg RJ, Schaper J et al (2014) A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry 85:257–265

3. Baumgartner MR, Hu CA, Almashanu S et al (2000) 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. Hum Mol Genet 9(19):2853–2858

4. Bindoff L (2006) Mitochondrial gastroenterology. In: DiMauro S, Hirano M, Schon EA (eds) Mitochondrial medicine. Informa Healthcare, Abingdon, pp 143–159

5. Blijlevens NMA, Lutgens LCHW, Schattenberg AVMB, Donnelly JP (2004) Citrulline: a potentially simple quantitative marker of intestinal epithelial damage following myeloablative therapy. Bone Marrow Transplant 34:193–196

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