Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation

Journal of Child Neurology

Volumn 21, Issue 11, 2006, Pages 978-981

  Mikati, Mohamad A ^a   Zalloua, Pierre ^a   Karam, Pascale ^a   Habbal, Mohamad Zuheir ^a   Rahi, Amal C ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BIOTIN; BIOTINIDASE; DIAZEPAM; GLUTAMIC ACID; LYSINE; PHENOBARBITAL; PHENYTOIN; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ARTICLE; BIOTINIDASE DEFICIENCY; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG RESPONSE; ELECTROENCEPHALOGRAM; ENZYME BLOOD LEVEL; FOLLOW UP; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERREFLEXIA; INFANT; INFANTILE SPASM; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PRIORITY JOURNAL; SEIZURE; SYRIAN ARAB REPUBLIC; VITAMIN SUPPLEMENTATION;

BIOTINIDASE DEFICIENCY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; POINT MUTATION; SPASMS, INFANTILE; SYRIA;

EID: 33846306672     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210110301     Document Type: Article

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