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Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients

The clinical and biochemical findings in three patients with glutaric aciduria Type 1 (GAT1) are presented. They had a normal postnatal period of three to 14 months. They developed sudden and severe encephalopathy following an infection or trauma (patient 3) that gradually progressed to severe dysto...

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Detalles Bibliográficos
Autores principales: Coates, Robert, Rashed, Mohammed, Rahbeeni, Zuhair, Al-Garawi, Sami, Al-Odaib, Ali N., Sakati, Nadia, Gascon, Generoso, Worthen, Howard, Ozand, Pinar T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 1994
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363523/
https://www.ncbi.nlm.nih.gov/pubmed/17586927
http://dx.doi.org/10.5144/0256-4947.1994.316