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GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the for...

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Detalles Bibliográficos
Autores principales:	Almaghrabi, Majdah A., Muthaffar, Osama Y., Alahmadi, Sereen A., Abdulsbhan, Mashael A., Bamusa, Mashael, Aljezani, Maram Ahmed, Bahowarth, Sarah Y., Alyazidi, Anas S., Aggad, Waheeb S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2023
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655665/ https://www.ncbi.nlm.nih.gov/pubmed/38020815 http://dx.doi.org/10.1177/2329048X231215630

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