Results 201 to 210 of about 8,200 (237)
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Ahomocysteinemia in molybdenum cofactor deficiency
Neurology, 1998We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high levels of oxypurines in serum and ...
W D, Graf +4 more
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2013
Molybdenum (Mo) cofactor deficiency (MoCD) is characterized by neonatal seizures, high-pitch crying, convulsions, and abnormal EEG and MRI findings accompanied by rapidly progressing neurodegeneration. In the absence of treatment, patients usually die within the first years of life and show no neurodevelopmental improvement.
Günter Schwarz, Alex Veldman
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Molybdenum (Mo) cofactor deficiency (MoCD) is characterized by neonatal seizures, high-pitch crying, convulsions, and abnormal EEG and MRI findings accompanied by rapidly progressing neurodegeneration. In the absence of treatment, patients usually die within the first years of life and show no neurodevelopmental improvement.
Günter Schwarz, Alex Veldman
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Molybdenum cofactor biosynthesis and deficiency
Cellular and Molecular Life Sciences, 2005The molybdenum cofactor (Moco) forms the active site of all molybdenum (Mo) enzymes, except nitrogenase. Mo enzymes catalyze important redox reactions in global metabolic cycles. Moco consists of Mo covalently bound to one or two dithiolates attached to a unique tricyclic pterin moiety commonly referred to as molybdopterin (MPT). Moco is synthesized by
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Antenatal diagnosis of molybdenum cofactor deficiency
American Journal of Obstetrics and Gynecology, 1990Analysis of uncultured chorionic villus material from a woman at risk of fetus with sulfite oxidase deficiency revealed a deficiency of sulfite oxidase. This was confirmed on termination of the pregnancy.
R G, Gray +7 more
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Molybdenum cofactor and human disease
Current Opinion in Chemical Biology, 2016Four molybdenum-dependent enzymes are known in humans, each harboring a pterin-based molybdenum cofactor (Moco) in the active site. They catalyze redox reactions using water as oxygen acceptor or donator. Moco is synthesized by a conserved biosynthetic pathway. Moco deficiency results in a severe inborn error of metabolism causing often early childhood
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Spherophakia associated with molybdenum cofactor deficiency
American Journal of Medical Genetics, 1997Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofacial alterations, intractable neonatal convulsions, very
R, Parini +8 more
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The biosynthesis of the molybdenum cofactors
JBIC Journal of Biological Inorganic Chemistry, 2014The biosynthesis of the molybdenum cofactors (Moco) is an ancient, ubiquitous, and highly conserved pathway leading to the biochemical activation of molybdenum. Moco is the essential component of a group of redox enzymes, which are diverse in terms of their phylogenetic distribution and their architectures, both at the overall level and in their ...
Ralf R, Mendel, Silke, Leimkühler
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Genetics of molybdenum cofactor deficiency
Human Genetics, 2000Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdoenzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. Effective therapy is not available for this rare disease, which results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency.
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MOLYBDENUM COFACTOR DEFICIENCY
Journal of Neuropathology and Experimental Neurology, 1998I. Shendrik +4 more
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Biogenesis of Molybdenum Cofactors
Critical Reviews in Microbiology, 1990S M, Hinton, D, Dean
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