Results 11 to 20 of about 116,948 (101)

Molybdenum-Cofactor Deficiency and Seizures

, 1993
The clinical, biochemical, and neuropathological findings in two neonates with molybdenum-cofactor deficiency presenting with convulsions are reported from the Academic Medical Center, Amsterdam, The ...
J Gordon Millichap, Millichap, J. Gordon
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Molybdenum Cofactor Deficiency: Dietary Therapy

, 1993
Moderate short-term clinical improvement was obtained with dietary methionine restriction and cysteine supplementation in a 5-month-old-girl with molybdenum cofactor deficiency (MoCD) treated at Yale University School of Medicine, New Haven ...
J Gordon Millichap, Millichap, J. Gordon
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Early Neuroimaging in Molybdenum Cofactor Deficiency

, 2014
Investigators at Wakayama Medical University, Japan, report the neuroimaging features soon after birth in 2 siblings with molybdenum cofactor deficiency (MoCoD) type ...
John J Millichap, J Gordon Millichap, Millichap, J. Gordon, Millichap, John J.   +3 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), Chin, Raymond (R17897), Edwards, Matthew (R16367), Whitehall, John (R15925), Santamaria, Jose A., Schwarz, Gunter, Roeper, Juliane, Wong, Flora   +7 more
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Isolation and characterisation of chlorate resistant mutants of barley [PDF]

, 2012
The object of this study has been to characterise barley mutants which lack the functional nitrate reductase (NR) enzyme system. In the long term it is hoped that such studies will lead to improved nitrate utilisation and ultimately to improved ...
Steven, Barbara
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Molybdenum cofactor deficiency: Neuroimaging findings

, 2018
Molybdenum cofactor deficiency is an extremely rare and fatal metabolic disorder that should be considered in the differential diagnosis of hypoxic-ischemic encephalopathy. Magnetic resonance imaging findings are useful in diagnosis.
Bora Özbakır, PhD, Mehmet Sedat Durmaz, PhD   +1 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, Nirit Carmi-Nawi, Gustavo Malinger, Dorit Lev, Kimiyoshi Ichida, Tally Lerman-Sagie   +5 more
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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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Structure of the molybdenum-cofactor biosynthesis protein MoaB ofEscherichia coli

, 2004
The moaABC operon of Escherichia coli is involved in early steps of the biosynthesis of the molybdenum-binding cofactor molybdopterin, but the precise functions of the cognate proteins are not known. The crystal structure of the MoaB protein from E. coli
Gomez-Ortiz, Mariola, Huber, Robert, Bader, Gerd, Bacher, Adelbert, Haussmann, Christoph, Fischer, Markus   +5 more
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Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

, 2010
International audienceAll molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum ...
Jochen Reiss, Hahnewald, Rita, Rita Hahnewald, Reiss, Jochen   +3 more
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