Neurological findings in aminoacylase 1 deficiency

Neurology

Volumn 68, Issue 24, 2007, Pages 2151-2153

  Sass, J O ^a   Olbrich, H ^a   Mohr, V ^a   Hart, C ^b   Woldseth, B ^c   Krywawych, S ^d   Bjurulf, B ^e   Lakhani, P K ^f   Buchdahl, R M ^g   Omran, H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e National Center for Epilepsy   (Norway)

^f MILTON KEYNES GENERAL HOSPITAL   (United Kingdom)

^g HILLINGDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACIDURIA; ADOLESCENT; AMINOACYLASE 1 DEFICIENCY; ARTICLE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; EPILEPSY; FEBRILE CONVULSION; FEMALE; GAS CHROMATOGRAPHY; HEMIPLEGIA; HUMAN; INFANT; LANGUAGE DEVELOPMENT; MALE; MASS SPECTROMETRY; MENTAL DEVELOPMENT; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DEVELOPMENT; TONIC CLONIC SEIZURE; URINE; VIRUS INFECTION;

ACETYLATION; ADOLESCENT; AMIDOHYDROLASES; AMINO ACIDS; BRAIN; BRAIN CHEMISTRY; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE;

EID: 34250361341     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000264933.56204.e8     Document Type: Article

References (7)

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