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

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

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

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Bibliographic Details
Main Authors: Jiangang Zhao, Yao An, Haoxiang Jiang, Haibin Wu, Fengyu Che, Ying Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
isolated sulfite oxidase deficiency
SUOX
molecular diagnosis
infant
neurometabolic disease
genetic counseling
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.607085/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.607085/full

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