The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations-Reference-Cited by-同舟云学术

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The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations

Published:2019-10 Issue: Volume:99 Page:55-59
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Arican Pinar,Gencpinar Pinar,Kirbiyik Ozgur,Bozkaya Yilmaz Sema,Ersen Atilla,Oztekin Ozgur,Olgac Dundar Nihal

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B;Reiss;Am J Hum Genet,1999

2. A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase;Zhang;J Biol Chem,2004

3. Molybdenum cofactor deficiency;Atwal;Mol Genet Metab,2016

4. Molybdenum cofactor deficiency: mutations in GPHN, MOCS1, and MOCS2;Reiss;Hum Mutat,2011

5. Critical appraisal of genotype assessment in molybdenum cofactor deficiency;Hinderhofer;J Inherit Metab Dis,2017

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16

2. A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria;Annals of Medicine & Surgery;2024-01-30

3. Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics;Epilepsy & Behavior;2023-06

4. Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research;Annals of the Child Neurology Society;2023-03

5. Molybdenum Cofactor Deficiency in Humans;Molecules;2022-10-14

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