Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations

OBJECTIVE: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for...

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Detalles Bibliográficos
Autores principales: PIRZADEH, Zahra, HOUSHMAND, Massoud, NASIRI, Jafar, MOLLAMOHAMMADI, Mohsen, SEDIGHI, Mostafa, TONEKABONI, Seyed Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5703630/
https://www.ncbi.nlm.nih.gov/pubmed/29201125

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