Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Molecular Genetics and Metabolism

Volumn 116, Issue 1-2, 2015, Pages 35-43

  Coughlin, Curtis R ^a   van Karnebeek, Clara D M ^b   Al Hertani, Walla ^c,f   Shuen, Andrew Y ^c,g   Jaggumantri, Sravan ^b   Jack, Rhona M ^d   Gaughan, Sommer ^a   Burns, Casey ^a   Mirsky, David M ^e   Gallagher, Renata C ^a,h   Van Hove, Johan L K ^a  

^a Children's Hospital Colorado   (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d SEATTLE CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALGARY   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alpha aminoadipic semialdehyde; Antiquitin; Arginine supplementation; Epileptic encephalopathy; Pyridoxine dependent epilepsy

Indexed keywords

ARGININE; CLOBAZAM; FOLINIC ACID; LYSINE; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; AMINO ACID; VITAMIN B COMPLEX;

ARTICLE; CEREBROSPINAL FLUID; CLINICAL ARTICLE; DIET RESTRICTION; DISEASE CONTROL; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE INCREASE; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMAN; MALE; NEUROTOXICITY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; TREATMENT OUTCOME; BLOOD; BRAIN; CASE REPORT; CLINICAL TRIAL; COMBINATION DRUG THERAPY; DIET THERAPY; DIETARY SUPPLEMENT; FEMALE; INFANT; METABOLISM; MULTICENTER STUDY; NEURODEVELOPMENTAL DISORDERS; PATHOLOGY; RETROSPECTIVE STUDY; URINE;

AMINO ACIDS; ARGININE; BRAIN; CEREBROSPINAL FLUID; DIET THERAPY; DIETARY SUPPLEMENTS; DRUG THERAPY, COMBINATION; EPILEPSY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LYSINE; MAGNETIC RESONANCE IMAGING; MALE; NEURODEVELOPMENTAL DISORDERS; PYRIDOXINE; RETROSPECTIVE STUDIES; VITAMIN B COMPLEX;

EID: 84940896596     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.05.011     Document Type: Article

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