BMC Ophthalmology, 2021 Background Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications.
Ning Hua +6 more
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Proteomic analysis of magnesium-dependent proteins and children’s health
Медицинский совет, 2017 Systems biology analysis of over 700 magnesium-dependent proteins in human proteome shown that these proteins affect (1) the embryonic development, (2) energy metabolism, (3) signal transduction processes from receptors, (4) neurological function, (5 ...
O. A. Gromova +2 more
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
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Pyridoxine Deficiency in Hyperthyroidism.
Experimental Biology and Medicine, 1960 SummaryThe occurrence of pyridoxine deficiency was determined in 14 patients with hyperthyroidism and 14 control euthyroid patients by the tryptophan load test. Urinary xanthurenic acid excretion following the tryptophan load test was significantly greater in hyperthyroid patients than in controls.
M G, WOHL +3 more
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Toward eradication of B-vitamin deficiencies : considerations for crop biofortification [PDF]
, 2018 'Hidden hunger' involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world ...
Strobbe, Simon +1 more
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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
Molecular Genetics and Metabolism Reports, 2016 We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger +6 more
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Glutamate carboxypeptidase II inhibition behaviorally and physiologically improves pyridoxine-induced neuropathy in rats. [PDF]
PLoS ONE, 2014 Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism.
Michelle C Potter +3 more
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Epilepsy & Behavior Reports, 2020 A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication.
Smilu Mohanlal +3 more
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Protective role of vitamin B6 (PLP) against DNA damage in Drosophila models of type 2 diabetes [PDF]
, 2018 Growing evidence shows that improper intake of vitamin B6 increases cancer risk and several studies indicate that diabetic patients have a higher risk of developing tumors.
MF Fenech +69 more
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