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Homocysteine-lowering treatment with folic acid, cobalamin, and pyridoxine does not suppress blood markers of inflammation, endothelial dysfunction, or …

GJ Hankey, P Eikelbloom, P Dusitanond… - Stroke, 2011 - espace.library.uq.edu.au
Hankey, GJ, Eikelbloom, P, Dusitanond, P, Thom, J, Loh, K, van Bockxmeer, F and Jamrozik,
K (2005) Homocysteine-lowering treatment with folic acid, cobalamin, and pyridoxine does not
suppress blood markers of inflammation, endothelial dysfunction, or hypercoagulability in ...
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Pyridoxine dependent epilepsy and antiquitin deficiency:: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

S Stockler, B Plecko, SM Gospe Jr… - Molecular Genetics and …, 2011 - Elsevier
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized
by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure
control most patients have intellectual disability. Folinic acid responsive seizures (FARS) ...
Related articles - All 2 versions

Effect of P2 receptor blockade with pyridoxine on sympathetic response to exercise pressor reflex in humans

J Cui, UA Leuenberger, C Blaha… - The Journal of …, 2011 - Physiological Soc
During exercise, sympathetic nervous system activity increases and this contributes to an increase
in blood pressure (ie exercise pressor reflex). Although animal studies suggest that purinergic
P2 receptors on thin fibre sensory nerves are stimulated and evoke this reflex, human ...
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CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient

JSS Kwok, SLM Fung, GCY Lui, ELK Law… - Pathology, 2011 - journals.lww.com
CBS is encoded by the CBS gene. Most of the CBS mutations are missense mutations, of which
the vast majority are private mutations. 2 Most affected patients are compound heterozygotes
of these private mutations. To our knowledge there are more than 150 pathogenic ...
All 2 versions

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

NS Yeghiazaryan, P Striano, L Spaccini… - European Journal of …, 2011 - Elsevier
Pyridoxine-dependent seizures (PDS; OMIM 266100) is rare autosomal recessive disorder characterized
by recurrent seizures in the prenatal, neonatal, or postnatal period, and often death in untreated
patients. [1] and [2] Affected neonates usually show hypothermia, jitteriness, ...
Related articles - All 2 versions

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