Pyridoxine responsiveness in novel mutations of the PNPO gene

Neurology

Volumn 82, Issue 16, 2014, Pages 1425-1433

  Plecko, Barbara ^a,b,c,d   Paul, Karl ^e   Mills, Philippa ^f   Clayton, Peter ^f   Paschke, Eduard ^e   Maier, Oliver ^g   Hasselmann, Oswald ^g   Schmiedel, Gudrun ^h   Kanz, Simone ⁱ   Connolly, Mary ^j   Wolf, Nicole ^k   Struys, Eduard ^l   Stockler, Sylvia ^j   Abela, Lucia ^a,c   Hofer, Doris ^e  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b Universitatsklinik fur Kinder und Jugendheilkunde Graz   (Austria)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY HOSPITAL GRAZ   (Austria)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g Cantonal Childrens Hospital   (Switzerland)

^h KLINIKUM ESSLINGEN   (Germany)

ⁱ Department of Pediatric Rheumatology   (Germany)

^j UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l VU UNIVERSITY AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAL 5 PHOSPHATE OXIDASE; PYRIDOXINE; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN, HUMAN; PYRIDOXAMINE PHOSPHATE OXIDASE;

ALLELE; ANIMAL CELL; ARTICLE; CHO CELL LINE; CLINICAL ARTICLE; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; EXON; FAMILY; FEMALE; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; CHEMICALLY INDUCED DISORDER; CHROMOSOME DELETION; CRICETULUS; DIFFERENTIAL DIAGNOSIS; DRUG EFFECT; DRUG SUBSTITUTION; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENE EXPRESSION; GENETICS; HETEROZYGOTE DETECTION; HYPOXIC ISCHEMIC ENCEPHALOPATHY; INFANTILE SPASM; METABOLIC ENCEPHALOPATHY; NEWBORN; NUCLEOTIDE SEQUENCE; SEIZURE;

ALDEHYDE DEHYDROGENASE; ALLELES; ANIMALS; BRAIN DISEASES, METABOLIC; CHO CELLS; CHROMOSOME DELETION; CRICETULUS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DRUG SUBSTITUTION; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXONS; FEMALE; GENE EXPRESSION; HETEROZYGOTE DETECTION; HUMANS; HYPOXIA-ISCHEMIA, BRAIN; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE; PYRIDOXINE; SEIZURES; SPASMS, INFANTILE; STATUS EPILEPTICUS;

EID: 84901932015     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000344     Document Type: Article

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