Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials-Reference-Cited by-同舟云学术

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials

Published:2015 Issue: Volume: Page:47-55
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Mazzuca Michel,Maubert Marie-Anne,Damaj Léna,Clot Fabienne,Cadoudal Marylène,Dubourg Christele,Odent Sylvie,Benoit Jean François,Bahi-Buisson Nadia,Christa Laurence,de Lonlay Pascale

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_410

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4. Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M (2006) A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 27:640–643. doi: 10.1002/humu.20373

5. Bligh EG, Dyer WJ (1959) A rapid method of total lipid extraction and purification. Can J Biochem Physiol 37:911–917

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