Diagnostic strategy for mucolipidosis II/III
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-012-0247-6.pdf
Reference15 articles.
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2. Mariko K, Michael B, Canfield W. Mucolipidosis II (ICell Disease) and mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase á/â-subunits precursor. Am J Hum Genet. 2006;78:451–463.
3. Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, et al. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000;105:673–681.
4. Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Lysosomal storage disorders in the newborn. Pediatrics. 2009;123:1191–1207.
5. Aracena M, Mabe P, Mena M, Andreani S, Daza C. Mucolipidoses type II. Rev Med Child. 2003;131:314–319.
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