Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: The first polish case with confirmed biochemical and molecular pathology

Journal of Child Neurology

Volumn 23, Issue 12, 2008, Pages 1455-1459

  Kaczorowska, Magdalena ^a   Kmiec, Tomasz ^a   Jakobs, Cornelis ^b   Kacinski, Marek ^c   Kroczka, Slawomir ^c   Salomons, Gajja S ^b   Struys, Eduard A ^b   Jozwiak, Sergiusz ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

AASA dehydrogenase; Alpha amino adipic semialdehyde dehydrogenase; Antiquitin; Pyridoxine dependent seizures

Indexed keywords

AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; ANTIBIOTIC AGENT; ANTIVIRUS AGENT; CLONAZEPAM; MANNITOL; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; PYRIDOXINE; THIOPENTAL; VALPROIC ACID; VIGABATRIN;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CONTROLLED STUDY; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; EPILEPTIC STATE; FEMALE; GENE MUTATION; GRAND MAL SEIZURE; HERPES SIMPLEX; HOSPITAL READMISSION; HUMAN; HYPERREFLEXIA; HYPOXEMIA; JAUNDICE; MUSCLE CONTRACTURE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POLAND; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT SEIZURE; RESPIRATORY FAILURE; SEIZURE; SEQUENCE ANALYSIS; UNCONSCIOUSNESS; URINALYSIS;

2-AMINOADIPIC ACID; ALDEHYDE DEHYDROGENASE; FEMALE; HUMANS; POLAND; PYRIDOXINE; SEIZURES; VITAMIN B COMPLEX;

EID: 57749171508     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808318543     Document Type: Article

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