Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family

AIM: To explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort. METHODS: Homocysteine and uric acid in plasma and cysteine and total homocysteine in the blood spot were assessed in a Chinese n...

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Detalles Bibliográficos
Autores principales: Zhao, Jiangang, An, Yao, Jiang, Haoxiang, Wu, Haibin, Che, Fengyu, Yang, Ying
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/PMC8139553/
https://www.ncbi.nlm.nih.gov/pubmed/34025712
http://dx.doi.org/10.3389/fgene.2021.607085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139553/
https://www.ncbi.nlm.nih.gov/pubmed/34025712
http://dx.doi.org/10.3389/fgene.2021.607085

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