Results 41 to 50 of about 564,598 (106)
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage
, 2005 Molybdenum cofactor deficiency leads to combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzyme activities. The major clinic symptom is intractable seizures seen soon after birth. No definite therapy is available.
Coskun, T, Teksam, O, Yurdakok, MURAT
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Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency: a mimicker of hypoxic ischaemic encephalopathy [PDF]
, 2018 Molybdenum cofactor deficiency is a rare metabolic disorder with neonatal onset seizures, developmental delay, microcephaly and spasticity. In this report, we describe a three-month-old infant presented with neonatal onset, poorly controlled seizures ...
Yoganathan, Sangeetha +5 more
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Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
, 2011 Molybdenum cofactor deficiency is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures and be mistaken for ischemic encephalopathy.
Hanna Mandel +5 more
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Molybdenum cofactor deficiency due to MOCS2 mutation
, 2012 Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite ...
Allgood, Catherine (x) +7 more
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, 2016 The molybdenum cofactor (Moco) is an essential redox cofactor found in all kingdoms of life. Genetic mutations in the human Moco biosynthetic enzymes lead to a fatal metabolic disorder, Moco deficiency (MoCD).
Kenichi Yokoyama (1324359) +1 more
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MRI Findings and Outcome in Molybdenum Cofactor Deficiency
, 2011 Researchers at Great Ormond Street Hospital, London, UK examined the clinical, brain MRI, biochemical, genetic, and EEG features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency seen over a 10-year ...
J Gordon Millichap, Millichap, J. Gordon
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Gene Location for Molybdenum Cofactor Deficiency
, 1998 Linkage of a molybdenum cofactor deficiency (MoCoD) gene to an 8-cM region on chromosome 6p21.3 has been localized by homozygosity mapping in 2 consanguineous affected kindreds of Israeli-Arab origin, including 5 patients, at the Department of Genetics ...
J Gordon Millichap
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A Turkish case with molybdenum cofactor deficiency
, 2006 Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS) 1 ...
Aydin, H. Ibrahim +9 more
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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
, 1998 Reiss J, Cohen N, Dorche C, et al. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS. 1998;20(1):51-53.All molybdoenzymes other than nitrogenase require molyb-dopterin as a metal-binding cofactor(1).
Dierks, Thomas +7 more
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Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
, 2010 Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase.
Gumus, Hakan +20 more
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