Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes

Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by variable clinical, biochemical and imaging features. Subjects: Herein, we report a girl with variant NK...

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Detalles Bibliográficos
Autores principales: Feng, Wei-xing, Zhuo, Xiu-wei, Liu, Zhi-mei, Li, Jiu-wei, Zhang, Wei-hua, Wu, Yun, Han, Tong-li, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155699/
https://www.ncbi.nlm.nih.gov/pubmed/34054912
http://dx.doi.org/10.3389/fgene.2021.605778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155699/
https://www.ncbi.nlm.nih.gov/pubmed/34054912
http://dx.doi.org/10.3389/fgene.2021.605778

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