Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Reference15 articles.
1. Dual Requirement for Gephyrin in Glycine Receptor Clustering and Molybdoenzyme Activity
2. Antenatal diagnosis of molybdenum cofactor deficiency
3. Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames
4. The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons
5. Functionality of Alternative Splice Forms of the First Enzymes Involved in Human Molybdenum Cofactor Biosynthesis
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3. Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors;Journal of Inorganic Biochemistry;2023-10
4. Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies;Cellular and Molecular Neurobiology;2023-03-02
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