Molybdenum cofactor deficiency: A natural history-Reference-Cited by-同舟云学术

Molybdenum cofactor deficiency: A natural history

Published:2022-03-03 Issue:3 Volume:45 Page:456-469
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Spiegel Ronen¹²^ORCID,Schwahn Bernd C.³⁴,Squires Liza⁵,Confer Nils⁵

Affiliation:

1. Emek Medical Center Afula Israel

2. Rappaport school of Medicine Technion Haifa Israel

3. Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester University NHS Foundation Trust, Health Innovation Manchester Manchester UK

4. Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester Manchester UK

5. Origin Biosciences San Francisco California UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12488

Reference48 articles.

1. Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic Defect

2. A Mechanism of Sulfite Neurotoxicity

3. Sulfite disrupts brain mitochondrial energy homeostasis and induces mitochondrial permeability transition pore opening via thiol group modification

4. Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency

5. The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models

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3. A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant;Clinical Case Reports;2024-07

4. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay;Pediatrics;2024-05-29

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