Results 101 to 110 of about 467 (113)

Perioperative Care of a Child With Molybdenum Cofactor Deficiency. [PDF]

J Med Cases
Villalobos EE, Olakunle IC, Tobias JD, Smith A.   +3 more
europepmc   +1 more source

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Human Genetics, 2005
Molybdenum cofactor deficiency (MIM#252150) is a severe autosomal- recessive disorder with a devastating outcome. The cofactor is the product of a complex biosynthetic pathway involving four different genes (MOCS1, MOCS2, MOCS3 and GEPH).
Silke Leimkühler, Fernando Scaglia, Claude Dorche   +2 more
exaly   +3 more sources

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH†

Human Mutation, 2003
Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
Jean L Johnson
exaly   +2 more sources

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Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Genes, 2023
Oybek Turgunkhujaev, Ilya Mazunin, Bogdan Efimenko   +2 more
exaly  

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

Diagnostics, 2020
Aleksandra Jezela-Stanek, Jolanta Sykut-Cegielska, Artur Góra   +2 more
exaly  

Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation

Neuropediatrics, 2022
Ching-Shiang Chi, Hsiu-Fen Lee, Chi-Ren Tsai   +2 more
exaly  

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2†

Human Mutation, 2011
Rita Hahnewald
exaly  

Identification and validation of Temozolomide resistance hub gene LncRNA MOCS2-DT in glioblastoma

2023
Qiang Gu
exaly  

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

Pediatric Neurology, 2019
Özgür Öztekin, Atilla Ersen, Pınar Gençpınar   +2 more
exaly