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Last Updated: 10/31/2025
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Found 214 publications
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.
Journal: European journal of pediatrics
Published: June 17, 2025
Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency.
Journal: Journal of inherited metabolic disease
Published: May 07, 2025
Molybdenum Cofactor Deficiency Type A disease in Northern Israel.
Journal: The Israel Medical Association journal : IMAJ
Published: March 26, 2025
Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy.
Journal: Journal of clinical medicine
Published: March 05, 2025
Perioperative Care of a Child With Molybdenum Cofactor Deficiency.
Journal: Journal of medical cases
Published: February 03, 2025
Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B.
Journal: Molecular genetics and metabolism
Published: January 14, 2025
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.
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: December 11, 2024
Genetic neonatal seizures in the neonatal intensive care unit: Diagnostic and prognostic implications for three families.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: August 21, 2024
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Journal: Molecular genetics and metabolism
Published: August 20, 2024
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate.
Journal: Journal of inherited metabolic disease
Published: July 31, 2024
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.
Journal: Clinical genetics
Published: July 25, 2024
Last Updated: 10/31/2025