Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 197-

  Mercimek Mahmutoglu, Saadet ^a,b   Donner, Elizabeth J ^a   Siriwardena, Komudi ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

ALDH7A1; Alpha aminoadipic acid semialdehyde; Pipecolic acid; Pyridoxine dependent epilepsy

Indexed keywords

2 AMINOADIPIC ACID; ALPHA AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE; CARBOXYLIC ACID DERIVATIVE; LYSINE; OXIDOREDUCTASE; PIPECOLIC ACID; PIPERIDINE 6 CARBOXYLIC ACID; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; PYRROLINE 5 CARBOXYLATE REDUCTASE; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN, HUMAN; PIPECOLIC ACID DERIVATIVE;

BLOOD LEVEL; CATABOLISM; EPILEPSY; FIBROBLAST; GENE MUTATION; HUMAN; LETTER; NONHUMAN; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; URINE LEVEL; ADOLESCENT; BLOOD; CASE REPORT; CHILD; GENETICS; INFANT; MALE; MUTATION; NEWBORN; PATHOLOGY;

ADOLESCENT; ALDEHYDE DEHYDROGENASE; CHILD; EPILEPSY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PIPECOLIC ACIDS; PYRIDOXINE;

EID: 84882810470     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.018     Document Type: Letter

References (5)

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