Document Detail


Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis.
MedLine Citation:
PMID:  7822734     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 7-year-old girl presented with a language disorder reminiscent of verbal auditory agnosia. Later, she proved to have defective N-acetylglucosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syndrome. She did not show clinical features of mucopolysaccharidosis. The language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy.
Authors:
P T Ozand; J N Thompson; G G Gascon; S B Sarvepalli; Z Rahbeeni; M J Nester; J Brismar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  9     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  1994 Oct 
Date Detail:
Created Date:  1995-02-10     Completed Date:  1995-02-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  408-11     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
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MeSH Terms
Descriptor/Qualifier:
Agnosia / diagnosis*,  genetics
Brain / pathology
Brain Diseases, Metabolic / diagnosis*,  genetics
Child
Child, Preschool
Dementia / diagnosis,  genetics
Female
Follow-Up Studies
Humans
Language Development Disorders / diagnosis*,  genetics
Magnetic Resonance Imaging
Mucopolysaccharidosis III / diagnosis*,  genetics
Sulfatases / deficiency,  genetics
Chemical
Reg. No./Substance:
EC 3.1.6.-/Sulfatases; EC 3.1.6.14/N-acetylglucosamine-6-sulfatase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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