Results 91 to 100 of about 564,598 (106)
Important tool in our rare disease toolbox: hybrid retrospective-prospective natural history studies serve well as external comparators for rare disease studies. [PDF]
Front Drug Saf RegulUgoji C +7 more
europepmc +1 more source
Molybdenum cofactor deficiency: Clinical features in a Turkish patient
Brain and Development, 2007 The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early ...
Håkan Gumus +2 more
exaly +3 more sources
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI [PDF]
European Journal of Paediatric Neurology, 2018 Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available.
Guenter Schwarz +2 more
exaly +2 more sources
Lancet, The, 2015 Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful.
Guenter Schwarz +2 more
exaly +2 more sources
Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)
European Journal of Paediatric Neurology, 2013 Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties.
Handan Güleryüz +2 more
exaly +2 more sources
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The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with mutation
Molecular Genetics and Metabolism Reports, 2021Yu Abe, Mitsugu Uematsu
exaly