Results 51 to 60 of about 423 (120)

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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Development of an in vitro assay for the identification of compounds that inhibit reductase activity of hAASS, therapeutic target of pyridoxine dependent epilepsy [PDF]

, 2022
La epilepsia dependiente de piridoxina (EDP) es una enfermedad rara producida por la mutación en el gen ALDH7A1 que codifica para la antiquitina (ATQ), una enzima que participa en el metabolismo degradativo de la L-lisina.
Cabanas Trevin, Lucía
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Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

, 2012
α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
Nota, B., Bakkali, A., Tabarki, B., Al Shahwan, S., Struijs, E.A., Salomons, G.S.   +5 more
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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., Glass, Ian A., Hahn, Sihoun, Chen, Yingzhang, Gospe Jr, Sidney M.   +4 more
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Molecular Defects of Vitamin B6 Metabolism Associated with Neonatal Epileptic Encephalopathy

, 2012
Neonatal epileptic encephalopathy (NEE) is a seizure disorder that occurs within hours from birth and arises from central nervous system (CNS) dysfunctions of various origins, including metabolic or inflammatory conditions, abnormalities of brain ...
Mohini S. Ghatge, Martin K., Roberto Contestabile, Sayali Karve, Verne Schirch, CONTESTABILE, Roberto, Mohini S., Dorothy N., DI SALVO, Martino Luigi, Martin K. Safo, Martino L. Di Salvo   +10 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, Krishna D, Gunasekaran PK, Tiwari S, Kumar P.   +4 more
europepmc   +1 more source

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, Thorat, Rohit, Ansari, Qudsiya, Sarkate, Akash, Randad, Kailas   +4 more
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New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. [PDF]

Neurology, 2023
Pearl PL, Tokatly Latzer I, Lee HHC, Rotenberg A.   +3 more
europepmc   +1 more source

Early diagnosis of pyridoxine-dependent epilepsy: Video-EEG monitoring and biochemical and genetic investigation

, 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, Des Portes, Vincent, Ginguene, Carole, Vile, Dorothee, De Bellescize, Jullita   +4 more
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Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2023
Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T.   +7 more
europepmc   +1 more source