Results 51 to 60 of about 564,598 (106)
, 2019 Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD).
Suzanne Laughlin +7 more
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Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli
, 2004 Substitution therapies for orphan genetic diseases, including enzyme replacement methods, are frequently hampered by the limited availability of the required therapeutic substance. We describe the isolation of a pterin intermediate from bacteria that was
Otte, T. +13 more
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Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
, 2007 Molybdenum cofactor is essential for the function of three human enzymes: sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Molybdenum cofactor deficiency is a rare autosomal recessively inherited disease.
Perez-Duenas, Belen +8 more
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Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
, 2003 Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
Reiss, Jochen, Johnson, J. L.
core +1 more source
Molybdenum Nutriture in Humans
, 2011 Molybdenum is a trace element that functions as a cofactor for at least 4 enzymes: sulfite oxidase, xanthine oxidase, aldehyde oxidase, and mitochondrial amidoxime reducing component.
Janet A. Novotny
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, 2022 Molybdenum cofactor (Moco) is a ubiquitous cofactor essential for lives of most organisms. In humans, Moco is essential for healthy development of brain, and inability to produce Moco causes a fatal Moco deficiency (MoCD) disease.
Pang, Haoran
core
Regulation of molybdenum cofactor of maize leaf
, 1987 Molybdenum cofactor and nitrate reductase were extracted from maize leaf and assayed using established methods. While both applied nitrate and light increased nitrate reductase activity, only nitrate was required to increase molybdenum cofactor to its ...
Campbell, Ellen R. +5 more
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Drosophila Melanogaster as a Model for Molybdo-Flavoenzyme Mediated Protection against Chemical and Physical Stress [PDF]
Aldehyde oxidase (AO) and xanthine oxidoreductase (XOR) are molybdo-flavoenzymes (MFEs) involved in the oxidation of hundreds of endogenous and exogenous aldehydes and N-heterocyclic compounds many of which are drugs, vitamins and environmental ...
Al Salhen, Khaled S
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Isolated sulfite oxidase deficiency
, 2017 Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum
Régal, Luc +13 more
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Molybdenum cofactor deficiency: Report of a new case and literature review
, 2010 We report a case of genetically confirmed molybdenum cofactor deficiency in an infant presenting with difficult to control neonatal seizures, and a severe cystic leukoencephalopathy on brain magnetic resonance imaging (MRI). This is a rare disease entity
Elamin Ahmed +2 more
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