Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity. Excessive metabolites are toxic that can cause damag...
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| Glavni autori: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Discover STM Publishing Ltd
2019-06-01
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| Serija: | Journal of Biochemical and Clinical Genetics |
| Teme: | |
| Online pristup: | http://www.ejmanager.com/fulltextpdf.php?mno=20004 |
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