Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency
نویسندگان
چکیده
منابع مشابه
Sulfite oxidase deficiency
? Multiple Choice Questions Section The Neurosciences Journal includes this section of multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read this s...
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15 صفحه اولPhenotypic spectrum of FARS2-deficiency
We read with interest the article by Vantroys et al. about two unrelated pediatric patients with FARS2-deficiency [1]. We have the following comments and concerns. Insomnia is a rare manifestation of a mitochondrial disorder(MID). Only in a study of 20 CPEO patients, 75% reported sleep dysfunction [2]. Did patient-2 take drugs that could explain sleeplessness? What were the results on polysomno...
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Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good p...
متن کاملMolecular Basis of Sulfite Oxidase Deficiency from the Structure of Sulfite Oxidase
The molybdenum-containing enzyme sulfite oxidase catalyzes the conversion of sulfite to sulfate, the terminal step in the oxidative degradation of cysteine and methionine. Deficiency of this enzyme in humans usually leads to major neurological abnormalities and early death. The crystal structure of chicken liver sulfite oxidase at 1.9 A resolution reveals that each monomer of the dimeric enzyme...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2020
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13843