Results 121 to 127 of about 718 (127)

Molybdenum Cofactor Deficiency with a Novel Pathogenic Variant in the Molybdenum Cofactor Synthesis 1 (MOCS1): A Case Report

Journal of Neonatology
Erin C Emmett
exaly  

Beyond the Arteries: Recurrent Metabolic Stroke-like Episodes in MOCS1-Related Molybdenum Cofactor Deficiency.

Annals of Indian Academy of Neurology
Leema Pauline Cornelius, Neeraj Elango
exaly  

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel variant

Molecular Genetics and Metabolism
Stewart Rust, Alistair Horman
exaly  

Gastrointestinal stromal tumour with ETV6 rearrangement: a report of two cases and including a novel ETV6 and MOCS1/LRFN2 intergenic region fusion

Journal of Clinical Pathology
Yahan Zhang, Hongying Zhang
exaly  

The bicistronic gene has alternative start codons on two mutually exclusive exons

Molecular Genetics and Metabolism, 2002
exaly  

Metformin restores mitochondrial bioenergetics and redox homeostasis through modulation of mitochondrial biogenesis and dynamics in patient derived cultured fibroblasts and an animal model of molybdenum cofactor deficiency

Biomedicine and Pharmacotherapy
Rafael Teixeira Ribeiro, Moacir Wajner, Guilhian Leipnitz   +2 more
exaly  

Funtional Analysis of the Murine Genes, MOCS1 and Sox15

exaly