Sphingolipid activator protein B deficiency: Report of 9 saudi patients and review of the literature

Journal of Child Neurology

Volumn 24, Issue 12, 2009, Pages 1513-1519

  Al Hassnan, Zuhair N ^a,c   Al Dhalaan, Hesham ^a   Patay, Zoltan ^a   Faqeih, Eissa ^b   Al Owain, Mohammed ^a,c   Al Duraihem, Adel ^a   Faiyaz Ul Haque, Mohammed ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Leukodystrophy; Metachromatic leukodystrophy; Sphingolipid activator protein

Indexed keywords

CEREBROSIDE SULFATASE; CYSTINE; SERINE; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN B; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CAPSULA INTERNA; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM; DNA DETERMINATION; DYSARTHRIA; HOMOZYGOSITY; HUMAN; METACHROMATIC LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PYRAMIDAL TRACT; SAUDI ARABIA; SPASTICITY; WALKING DIFFICULTY; WHITE MATTER;

AMINO ACID SUBSTITUTION; CENTRAL NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTATION; SAUDI ARABIA; SPHINGOLIPID ACTIVATOR PROTEINS;

EID: 75149130556     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809341269     Document Type: Article

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