AB120. Correlation of genotype with biochemical profile in patients with Glutaric Acidemia type I: a study from India

BACKGROUND AND OBJECTIVE: Mutations in glutaryl-CoA dehydrogenase gene causes Glutaric Acidemia type I (GA-I), an autosomal recessive, metabolic disorder which leads to accumulation of Glutaric Acid, 3-Hydroxyglutaric acid, Glutaconic Acid and Glutarylcarnitine (C5DC). There are no studies that corr...

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Vydáno v:Ann Transl Med
Hlavní autoři: Shaik, Muntaj, Vedumurthy, A. B., Kruthika-Vinod, T. P.
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2015
Témata:
Part 4: Oral/poster
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563524/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB120
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