The Sanfilippo syndromes: natural history

被引:0
作者
Wijburg, F. A. [1 ]
机构
[1] Univ Hosp Amsterdam, Acad Med Ctr, Dept Pediat, Div Metab Disorders, Amsterdam, Netherlands
关键词
HEPARAN-SULFATE; GENE; MUCOPOLYSACCHARIDOSIS; DISTURBANCE; MUTATIONS; SPECTRUM; DISEASE;
D O I
暂无
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
引用
收藏
页码:S40 / S41
页数:2
相关论文
共 16 条
[1]   Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) [J].
Beesley, CE ;
Jackson, M ;
Young, EP ;
Vellodi, A ;
Winchester, BG .
JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (05) :759-767
[2]   Analysis of Sanfilippo A gene mutations in a large pedigree [J].
Di Natale, P ;
Villani, GRD ;
Di Domenico, C ;
Daniele, A ;
Vici, CD ;
Bartuli, A .
CLINICAL GENETICS, 2003, 63 (04) :314-318
[3]   Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: α-Glucosaminide N-Acetyltransferase (HGSNAT) Gene [J].
Feldhammer, Matthew ;
Durand, Stephanie ;
Mrazova, Lenka ;
Boucher, Renee-Myriam ;
Laframboise, Rachel ;
Steinfeld, Robert ;
Wraith, James E. ;
Michelakakis, Helen ;
van Diggelen, Otto P. ;
Hrebicek, Martin ;
Kmoch, Stanislav ;
Pshezhetsky, Alexey V. .
HUMAN MUTATION, 2009, 30 (06) :918-925
[4]   Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study [J].
Fraser, J ;
Gason, AA ;
Wraith, JE ;
Delatycki, MB .
ARCHIVES OF DISEASE IN CHILDHOOD, 2005, 90 (12) :1239-1242
[5]   Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent [J].
Gondré-Lewis, MC ;
McGlynn, R ;
Walkley, SU .
CURRENT BIOLOGY, 2003, 13 (15) :1324-1329
[6]   ULTRASTRUCTURAL AND BIOCHEMICAL ASPECTS OF THE SANFILIPPO SYNDROME, TYPE-III GENETIC MUCOPOLYSACCHARIDOSIS [J].
HAUST, MD ;
GORDON, BA .
CONNECTIVE TISSUE RESEARCH, 1986, 15 (1-2) :57-64
[7]   Apoptotic cell death in mouse models of G(M2) gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases [J].
Huang, JQ ;
Trasler, JM ;
Igdoura, S ;
Michaud, J ;
Hanai, N ;
Gravel, RA .
HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1879-1885
[8]   Sanfilippo syndrome type D - Natural history and identification of 3 novel mutations in the GNS gene [J].
Jansen, An C. M. ;
Cao, Henian ;
Kaplan, Paige ;
Silver, Kenneth ;
Leonard, Gabriel ;
De Meirleir, Linda ;
Lissens, Willy ;
Liebaers, Inge ;
Veilleux, Martin ;
Andermann, Frederick ;
Hegele, Robert A. ;
Andermann, Eva .
ARCHIVES OF NEUROLOGY, 2007, 64 (11) :1629-1634
[9]   The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) [J].
Meyer, Ann ;
Kossow, Kai ;
Gal, Andreas ;
Steglich, Cordula ;
Miihlhausen, Chris ;
Ullrich, Kurt ;
Braulke, Thomas ;
Muschol, Nicole .
HUMAN MUTATION, 2008, 29 (05) :770-770
[10]  
Neufeld EF., 2001, The Metabolic and Molecular Bases of Inherited Disease, P3421, DOI DOI 10.1036/OMMBID.165