Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia

Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed. Resu...

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Detalles Bibliográficos
Autores principales: Ji, Guang, Liu, Yaling, Song, Xueqin, Li, Zhenfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8968641/
https://www.ncbi.nlm.nih.gov/pubmed/35368667
http://dx.doi.org/10.3389/fgene.2022.807822

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8968641/
https://www.ncbi.nlm.nih.gov/pubmed/35368667
http://dx.doi.org/10.3389/fgene.2022.807822

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