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Glutaric Acidemia Type 1: A Case of Infantile Stroke
Background: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Cl...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874218/ https://ncbi.nlm.nih.gov/pubmed/28411331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_26 |
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