Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 209 citations · Full text

Signal Transduction, α/β Glcnac-1-phosphotransferase, Disease Mechanism +10

Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene

Mariko Kudo, Michael S. Brem, William M. Canfield · The American Journal of Human Genetics · 2006 · 156 citations · Full text

Autoimmune Disease, Disease Mechanism, Genetic Disorder +10

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Sara Cathey, J. G. Leroy, Tim Wood et al. · Journal of Medical Genetics · 2009 · 153 citations

Hurler-like Phenotype

Néstor Chamoles, Mariana Blanco, Daniela Gaggioli et al. · Clinical Chemistry · 2001 · 139 citations · Full text