Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.

Journal of inherited metabolic disease

Volumn 30, Issue 1, 2007, Pages 2-4

  Pearl, P L ^a,b   Gospe, S M ^c,d  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE;

EPILEPSY; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; METABOLISM; NEWBORN; NOTE;

ALDEHYDE DEHYDROGENASE; EPILEPSY; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE; PYRIDOXINE;

EID: 58749116466     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-9974-1     Document Type: Note

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