相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular order in mucolipidosis II and III nomenclature
Sara S. Cathey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Mucolipidosis II:: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population
M. Plante et al.
CLINICAL GENETICS (2008)
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
Ruth Bargal et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine: Lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase
M Kudo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
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
M Kudo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The α- and β-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme phosphotransferase are encoded by a single cDNA
M Kudo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase
S Tiede et al.
NATURE MEDICINE (2005)
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolliplidoslis type II or type IIIA
KH Paik et al.
HUMAN MUTATION (2005)
Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report
S Grewal et al.
BONE MARROW TRANSPLANTATION (2003)
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
A Raas-Rothschild et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
分享论文
