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Glutaric Acidemia Type 1

Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hedlund, Gary L., Longo, Nicola, Pasquali, Marzia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2006
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2556991/
https://ncbi.nlm.nih.gov/pubmed/16602100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30088
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