SANFILIPPO SYNDROME TYPE-A IN 2 ADULT SIBS

Authors
LINDOR NM HOFFMAN A OBRIEN JF HANSON NP THOMPSON JN
Citation
Nm. Lindor et al., SANFILIPPO SYNDROME TYPE-A IN 2 ADULT SIBS, American journal of medical genetics, 53(3), 1994, pp. 241-244
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
53
Issue
3
Year of publication
1994
Pages
241 - 244
Database
ISI
SICI code
0148-7299(1994)53:3<241:SSTI2A>2.0.ZU;2-X
Abstract
We report on 2 adult sibs with Sanfilippo syndrome type A (MPS IIIA; d eficiency of heparin sulfamidase) who were less functionally impaired than other reported individuals with this disorder, These individuals expand our understanding of the range of clinical expression that one may see in Sanfilippo syndrome type A. (C) 1994 Wiley-Liss, Inc.