Molybdenum Cofactor Deficiency in Humans [PDF]
Molecules, 2022 Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic–ischemic lesions.
Guenter Schwarz, Chun-Yu Fu
exaly +4 more sources
Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma [PDF]
Frontiers in Oncology, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Baodong Wang, Mei Li, Rongshan Li
doaj +2 more sources
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report [PDF]
Frontiers in Neurology, 2023 BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with ...
Montaha Almudhry +14 more
doaj +2 more sources
A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report [PDF]
Children, 2023 Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births.
Giulia Lucignani +11 more
doaj +2 more sources
Detection of Arachnomelia Syndrome in Simmental Cattle in Türkiye [PDF]
Veterinary Medicine and ScienceHereditary diseases in cattle lead to economic losses across various breeds worldwide, with arachnomelia syndrome being one such disorder found in Simmental cattle.
Mehmet Cevat Temizkan +2 more
doaj +2 more sources
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation [PDF]
Molecular Genetics and Metabolism Reports, 2021 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism that results from mutations in genes involved in molybdenum cofactor (Moco) biosynthesis.
Yu Abe +6 more
doaj +2 more sources
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis [PDF]
JIMD ReportsMolybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years.
Molly M. Crenshaw +11 more
doaj +2 more sources
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review [PDF]
BMC Medical GenomicsBackground Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication.
Morgan Kinsinger +2 more
doaj +2 more sources
Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach. [PDF]
PLoS ONE, 2013 Arachnomelia syndrome (AS), mainly found in Brown Swiss and Simmental cattle, is a congenital lethal genetic malformation of the skeletal system. In this study, a network-based disease gene prioritization approach was implemented to rank genes in the ...
Shihui Jiao +18 more
doaj +1 more source
Frontiers in Genetics, 2021 Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN ...
Qi Tian +12 more
doaj +1 more source