Associated Papers
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Schwahn BC et al.
Journal of Inherited Metabolic Disease, 2024
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
Jiang Y et al.
Molecular Cytogenetics, 2024
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Ferreira EA et al.
Genetics in Medicine Open, 2024
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.
Almudhry M et al.
Frontiers in Neurology, 2023
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].
Wu LH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case.
Satar M et al.
Turkish Archives of Pediatrics, 2021
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Eggermann T et al.
Molecular Genetics & Genomic Medicine, 2017
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
Bayram E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J et al.
Human Mutation, 2011
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
Gümüş H et al.
Developmental Medicine and Child Neurology, 2010
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J et al.
Human Mutation, 2003
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J et al.
Human Genetics, 1998