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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...
Autores principales: | Feng, Wei-xing, Zhuo, Xiu-wei, Liu, Zhi-mei, Li, Jiu-wei, Zhang, Wei-hua, Wu, Yun, Han, Tong-li, Fang, Fang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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