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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| Główni autorzy: | , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2021-05-01
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| Seria: | Frontiers in Genetics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.frontiersin.org/articles/10.3389/fgene.2021.607085/full |
| Etykiety: |
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