Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-tryp...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Campos-Garcia, Felix-Julian, Chacon-Camacho, Oscar F., Contreras-Capetillo, Silvina, Cruz-Aguilar, Marisa, Medina-Escobedo, Carolina E., Moreno-Graciano, Claudia M., Rodas, Agustín, Herrera-Perez, Luz del Alba, Zenteno, Juan C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
Soggetti:
Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6879986/
https://ncbi.nlm.nih.gov/pubmed/31788423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100533
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