Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to severe disorders that, neve...

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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: Pontoizeau, Clément, Habarou, Florence, Brassier, Anaïs, Veauville-Merllié, Alice, Grisel, Coraline, Arnoux, Jean-Baptiste, Vianey-Saban, Christine, Barouki, Robert, Chadefaux-Vekemans, Bernadette, Acquaviva, Cécile, de Lonlay, Pascale, Ottolenghi, Chris
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864717/
https://ncbi.nlm.nih.gov/pubmed/26409463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_481
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