Results 11 to 20 of about 3,050,532 (174)
Pediatric Neurology Briefs, 1992 Four children with pyridoxine dependent seizures beginning at 2 to 19 months are reported from the Loyola University Medical Center, Maywood, IL.
J Gordon Millichap
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Pyridoxine-Dependent Epilepsy and Pipecolic Acid
Pediatric Neurology Briefs, 2000 Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria.
J Gordon Millichap
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ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]
Genetics, 2017 AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Izabella Pena +2 more
exaly +7 more sources
Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS [PDF]
International Journal of Analytical Chemistry, 2018 Pyridoxine dependent epilepsy is a condition where the affected infant or child has prolonged seizures (status epilepticus), which are nonresponsive to anticonvulsant therapy but can be treated with pharmacological doses of pyridoxine.
Elizabeth Mary Mathew +3 more
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Epilepsy and hydrocephalus: Should pyridoxine-dependent epilepsy cross our minds? [PDF]
Annals of Indian Academy of Neurology, 2020 Shivan Kesavan +4 more
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Long‐term outcome in pyridoxine‐dependent epilepsy [PDF]
Developmental Medicine & Child Neurology, 2012 Aim The long‐term outcome of the Dutch pyridoxine‐dependent epilepsy cohort and correlations between patient characteristics and follow‐up data were retrospectively studied.Method Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo–16y ...
Bok, L.A. +12 more
openaire +4 more sources
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature [PDF]
The Turkish Journal of Pediatrics, 2015 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert +4 more
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Glutamate in Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 1994 Cerebrospinal fluid levels of glutamate, g-aminobutyric acid, and pyridoxal-5-phosphate examined in a patient with pyridoxine dependency while on and off vitamin B6 treatment are reported from Universitat Munchen, and Universitats-Nervenklinik, Wurzburg,
J Gordon Millichap
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Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2013 Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
doaj +2 more sources