Current diagnosis and treatment of pyridoxine dependent epilepsy due to antiqutin deficiency [PDF]
, 2016 Drgawki pirydoksynozależne (pyridoxine-dependent epilepsy – PDE) to rzadko występująca encefalopatia padaczkowa uwarunkowana autosomalnie recesywnie. Charakteryzuje się uporczywymi, nawracającymi drgawkami u noworodków i niemowląt, nieodpowiadającymi na ...
Dariusz Rokicki +5 more
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Purification and characterization of two isoforms of aldehyde dehydrogenase from the liver of black seabream Mylio macrocephalus. [PDF]
, 2002 by Tang Wai Kwan.Thesis (M.Phil.)--Chinese University of Hong Kong, 2002.Includes bibliographical references (leaves 91-110).Abstracts in English and Chinese.Acknowledgements論文摘要AbstractAbbreviationsChapter Chapter 1 --- IntroductionChapter 1.1 ...
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Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
, 2009 Purpose: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin
Bennett, Craig L. +4 more
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Subcellular localization-function relationship study in human antiquitin. [PDF]
, 2011 Chan, Chi Lung.Thesis (M.Phil.)--Chinese University of Hong Kong, 2011.Includes bibliographical references (leaves 103-127).Abstracts in English and Chinese.Thesis Assessment Committee --- p.iDeclaration --- p.iiAcknowledgements --- p.iii摘要 --- p ...
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A rare case of early onset vitamin B6 dependent epilepsy [PDF]
Pyridoxine dependent epilepsy (PDE) is a rare seizure disorder which manifests in neonatal period, but can be manifested in early infancy also. Seizures are seen in the first month of life in the classical form, but in the atypical form they don\u27t ...
Singh, Vinaya +4 more
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, 2013 International audiencePyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome
Marignier, Stéphanie +4 more
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Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]
Mov Disord Clin Pract, 2023 Saini L +4 more
europepmc +1 more source
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. [PDF]
Neurology, 2023 Pearl PL +3 more
europepmc +1 more source
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy
, 2018 ObjectiveTo evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE).MethodsMeasurements were conducted through landmark-based geometric morphometrics applied on cerebral MRIs of ...
Jason N. Wright +7 more
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Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]
Neurology, 2023 Fortin O +7 more
europepmc +1 more source