Follow-up of a child with hypoacetylaspartia

Neuropediatrics

Volumn 35, Issue 4, 2004, Pages 255-258

  Boltshauser, E ^a   Schmitt, B ^a   Wevers, R A ^b   Engelke, U ^b   Burlina, A B ^c   Burlina, A P ^c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Capillary electrophoresis; Hypoacetylaspartia; Magnetic resonance imaging; Magnetic resonance spectroscopy; N acetylaspartate; N acetylaspartylglutamate

Indexed keywords

ASPARTATE N ACETYLTRANSFERASE; ASPARTIC ACID; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BEHAVIOR DISORDER; CASE REPORT; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; ENZYME DEFICIENCY; GRAND MAL SEIZURE; HUMAN; HYPOACETYLASPARTIA; INBORN ERROR OF METABOLISM; INBORN ERROR OF N ACETYLASPARTATE METABOLISM; MALE; MICROCEPHALY; NEUROLOGIC DISEASE; NEUROSPECTROSCOPY; NEUTRON ACTIVATION ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SPECTROSCOPY; SPEECH DISORDER;

AMINO ACID METABOLISM, INBORN ERRORS; ASPARTIC ACID; BRAIN; DEVELOPMENTAL DISABILITIES; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; STATUS EPILEPTICUS;

EID: 4544337906     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821036     Document Type: Article

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