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

Internet

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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