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Abbreviation : ML
Long Form : mucolipidosis
No. Year Title Co-occurring Abbreviation
2020 Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. ---
2019 Sleep-disordered breathing in children with mucolipidosis. AHI, CPAP, NIV, OSA
2019 The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. GlcNAc
2017 Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. DBS, DS, GAGs, MPSs, MS/MS
2017 GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. ---
2017 I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. GAG, MPS
2017 Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs. KS, LSDs, MPS IVA
2016 Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. HSCT
2016 Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. cDNA, gDNA
10  2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. ARSB, DBS, IDS, IDUA, MPS
11  2014 A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain. GNPT
12  2014 Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). ---
13  2013 Bilateral carpal tunnel syndrome in two children: common manifestation of an uncommon disease. CTS
14  2013 Mucopolysaccharidoses and mucolipidoses. HSCT, MPS
15  2012 Diagnostic strategy for mucolipidosis II/III. MPS
16  2011 Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. GAGs, LOD, MPS
17  2010 The natural history and osteodystrophy of mucolipidosis types II and III. PEDI
18  2009 Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. FGE, MSD, NPC1
19  2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. ---
20  2008 Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. SLSJ
21  2007 Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells. ---
22  2006 Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. COBLT, GVHD
23  2005 Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. HS, MPS
24  2005 Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. GAGs, KS, MPS
25  2003 Carpal tunnel syndrome in children. CTS, HNPP, MPS, SJS
26  1999 Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts. ---
27  1998 [Carpal tunnel syndrome in childhood. A case of early onset]. CTS, EMG, MPS
28  1995 Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis. MPS, PBMC
29  1988 A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations. ---
30  1981 Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. ---
31  1981 The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. ---
32  1980 Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III. ---
33  1980 Deficiency of neuraminidase in the sialidoses and the mucolipidoses. ICD