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Documents A Guide to Understanding ML II and III

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

Documents Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are...

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)

Documents Mucolipidosis II alpha/beta

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

Documents GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case...

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case reportCASE REPORT Open Access GNPTAB c.2404C > T nonsense mutation in a

Documents I-cell disease-mucolipidosis II

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

Documents Diagnostic Strategy for Mucolipidosis II/III

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

Documents Inheritance, Biochemical Abnormalities, and Clinical Features of Feline Mucolipidosis II: The First....

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

Documents Mucolipidosis II: correlation between radiological features and histopathology of the bones

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

Documents Mucolipidosis type II and type III: a systematic review of 843 published cases

Mucolipidosis type II and type III: a systematic review of 843 published casesSYSTEMATIC REVIEW Mucolipidosis type II and type III: a systematic review of 843 published cases

Documents MUCOLIPIDOSIS II. ESTUDIO CLÍNICO, BIOQUÍMICO Y GENÉTICO

MUCOLIPIDOSIS II. ESTUDIO CLÍNICO, BIOQUÍMICO Y GENÉTICOMUCOLIPIDOSIS II. ESTUDIO CLÍNICO, BIOQUÍMICO Y GENÉTICO Dra. Ibis Menéndez,1