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Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene

Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy pr...

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Detalles Bibliográficos
Autores principales:	Gowda, Vykuntaraju Kammasandra, Nagarajan, Balamurugan, Srinivasan, Varunvenkat M., Bhat, Maya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8276965/ https://www.ncbi.nlm.nih.gov/pubmed/34316315 http://dx.doi.org/10.4103/jpn.JPN_63_20

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