14.pmd45 JSAFOG Journal of South Asian Federation of Obstetrics and Gynaecology, January-April 2013;5(1):45-46 A Case of Mucopolysaccharidosis II /I-Cell Disease Ramesh Chandran

I-Cell Disease and Pseudo-Hurler Polydystrophy The National MPS Society exists to fi nd cures for MPS and related diseases. We provide hope and support for affected individuals

doi:10.1086/500849www.ajhg.org Kudo et al.: GNPTAB Mutations in MLII and MLIIIA 451 Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy)

Mucolipidosis II alpha/betaMucolipidosis II alpha/beta Description Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that

Introduction Mucolipidosis type II (MLII; MIM#252500) and type III alpha/ beta (MLIIIA; MIM#252600) are very rare lysosomal storage dis- eased caused by deficient activity

I-cell disease-mucolipidosis II Royal Manchester Children's Hospital, Pendlebury, Nr Manchester Summary I-cell disease is an example of the mucolipidoses, a group of

RB-3-279.pmdM ucolipidosis II/III [ML II/III] are rare autosomal recessive lysosomal storage disorders with a joint incidence of 1 in 325,000 live births [1]. It is a progressive

hred-94-05-01 363..373Zurich Open Repository and Archive University of Zurich University Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2003 Mazrier, H

406_1.tifPediatr Radiol (1989) 19:406-413 Pediatric Radiology © Springer-Verlag 1989 Mucolipidosis II: correlation between radiological features and histopathology of

Mucolipidosis II: a single causal mutation in the Nacetylglucosamine1phosphotransferase gene (GNPTAB) in a French Canadian founder populationClin Genet 2008: 73: 236–244