Sanfilippo type A: New clinical manifestations and neuro-imaging findings in patients from the same family in Israel: A case report

Journal of Medical Case Reports

Volumn 8, Issue 1, 2014, Pages

  Sharkia, Rajech ^a,b   Mahajnah, Muhammad ^c,d   Zalan, Abdelnaser ^a   Sourlis, Chrysovalantis ^e   Bauer, Peter ^f   Schöls, Ludger ^e,g  

^a Triangle Research and Development Center   (Israel)

^b BEIT BERL COLLEGE   (Israel)

^c HILLEL YAFFE MEDICAL CENTER   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^f UNIVERSITY OF TÜBINGEN   (Germany)

^g UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Israeli Arabs; Mucopolysaccharidosis type III; Sanfilippo type A; T139M mutation

Indexed keywords

GLYCOSAMINOGLYCAN; N SULFOGLUCOSAMINE SULFOHYDROLASE; SULFATASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARAB; ARM; ARTICLE; AUTISM; BABINSKI REFLEX; BEHAVIOR DISORDER; BIOCHEMISTRY; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONVULSION; CORPUS CALLOSUM; DISEASE COURSE; DISEASE SEVERITY; EVOKED AUDITORY RESPONSE; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INCONTINENCE; INTELLECTUAL IMPAIRMENT; ISRAEL; JOINT CONTRACTURE; LEG MUSCLE; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MYELINATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL CORTEX; PARIETAL CORTEX; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECURRENT DISEASE; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE A; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISCOLORATION; SPASTICITY; SPEECH DELAY; TENDON REFLEX; UNCONSCIOUSNESS; URINE LEVEL; WHITE MATTER;

EID: 84895921337     PISSN: None     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-8-78     Document Type: Article

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