Published in J Med Genet on July 16, 2009
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr (2012) 1.26
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. J Biol Chem (2014) 0.99
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Brain (2012) 0.97
Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. Proc Natl Acad Sci U S A (2014) 0.96
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Mol Biol Cell (2011) 0.96
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med (2013) 0.96
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II. Dis Model Mech (2011) 0.92
Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. Mol Biol Cell (2009) 0.90
The renal biopsy in the genomic era. Pediatr Nephrol (2012) 0.89
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. Korean J Pediatr (2012) 0.86
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. Eur J Hum Genet (2013) 0.85
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. J Biol Chem (2011) 0.85
Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway. Biochim Biophys Acta (2011) 0.84
Extensive mannose phosphorylation on leukemia inhibitory factor (LIF) controls its extracellular levels by multiple mechanisms. J Biol Chem (2011) 0.84
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Hum Mol Genet (2015) 0.81
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. J Biol Chem (2014) 0.81
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur J Hum Genet (2015) 0.81
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. PLoS One (2014) 0.80
The glycan-binding properties of the cation-independent mannose 6-phosphate receptor are evolutionary conserved in vertebrates. Glycobiology (2012) 0.80
Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. Biol Blood Marrow Transplant (2014) 0.79
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. Meta Gene (2014) 0.78
Golgi post-translational modifications and associated diseases. J Inherit Metab Dis (2015) 0.78
Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med (2011) 0.78
Modelling inborn errors of metabolism in zebrafish. J Inherit Metab Dis (2014) 0.77
Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting. J Bone Miner Res (2015) 0.77
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC Genet (2015) 0.75
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab (2016) 0.75
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. PLoS One (2016) 0.75
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. Dentomaxillofac Radiol (2012) 0.75
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. Clin Case Rep (2017) 0.75
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis. Orphanet J Rare Dis (2017) 0.75
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls. Front Behav Neurosci (2017) 0.75
Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol (2016) 0.75
The assay of arylsulphatases A and B in human urine. Clin Chim Acta (1959) 3.47
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest (1981) 3.34
Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun (1981) 2.53
Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science (1967) 2.13
I-cell disease: biochemical studies. Pediatr Res (1972) 2.08
Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev (2007) 1.99
Synthesis of phosphorylated recognition marker in lysosomal enzymes is located in the cis part of Golgi apparatus. J Biol Chem (1982) 1.98
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med (2005) 1.93
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet (2006) 1.72
Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol (2007) 1.67
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J Biol Chem (1996) 1.62
Multiple lysosomal deficiency due to enzyme leakage? N Engl J Med (1971) 1.55
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A (2005) 1.55
The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem (2005) 1.55
The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik (1970) 1.39
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids. N Engl J Med (1971) 1.27
Comparative pathology of murine mucolipidosis types II and IIIC. Vet Pathol (2009) 1.14
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet (2004) 1.13
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab (2006) 1.11
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. Pediatr Res (1973) 1.08
Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A (2008) 1.03
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat (2005) 1.00
Study of the bone pathology in early mucolipidosis II (I-cell disease). Eur J Pediatr (1989) 0.98
[Hurler's pseudo-polydystrophy]. Presse Med (1966) 0.97
I-cell disease (mucolipidosis II):a report on its pathology. Acta Neuropathol (1975) 0.97
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit. J Biol Chem (1996) 0.95
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet (2008) 0.95
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A (2005) 0.95
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. Clin Genet (1973) 0.92
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. J Hered (2003) 0.91
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A (2005) 0.90
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. Mol Genet Metab (2007) 0.87
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat (2004) 0.87
I-cell disease. A further report on its pathology. Acta Neuropathol (1984) 0.86
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion. Clin Chim Acta (2006) 0.81
Comparison of DNA sequences with protein sequences. Genomics (1997) 7.76
Guidelines and good clinical practice recommendations for contrast enhanced ultrasound (CEUS) in the liver--update 2012: a WFUMB-EFSUMB initiative in cooperation with representatives of AFSUMB, AIUM, ASUM, FLAUS and ICUS. Ultraschall Med (2012) 4.21
Diagnostic importance of changes in circulating concentrations of immunoreactive trypsin. Lancet (1977) 3.43
Relationship of Helicobacter pylori to serum pepsinogens in an asymptomatic Japanese population. Gastroenterology (1992) 2.83
Dynamic changes of the inflammation-based index predict mortality following chemoembolisation for hepatocellular carcinoma: a prospective study. Aliment Pharmacol Ther (2014) 2.66
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet (1995) 2.55
High prevalence of anti-hepatitis B virus serological markers in patients with hepatitis C virus related chronic liver disease in Japan. Gut (1999) 2.46
The three subfamilies of leucine-rich repeat-containing G protein-coupled receptors (LGR): identification of LGR6 and LGR7 and the signaling mechanism for LGR7. Mol Endocrinol (2000) 2.37
Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet (1994) 2.31
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 2.16
Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science (1967) 2.13
I-cell disease: biochemical studies. Pediatr Res (1972) 2.08
Dynamic imaging of pancreatic diseases by contrast enhanced coded phase inversion harmonic ultrasonography. Gut (2004) 1.89
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell (1994) 1.85
An evaluation of the API ZYM system as a means of classifying spirochaetes associated with swine dysentery. Vet Rec (1979) 1.80
Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients. Biochem Biophys Res Commun (1982) 1.78
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
Possible role of Helicobacter pylori infection in early gastric cancer development. Cancer (1994) 1.68
Tay-Sachs disease: prenatal diagnosis. Science (1971) 1.65
First interim analysis of the GIDEON (Global Investigation of therapeutic decisions in hepatocellular carcinoma and of its treatment with sorafeNib) non-interventional study. Int J Clin Pract (2012) 1.65
Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics (1986) 1.60
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A (1976) 1.60
Molecular model of the specificity pocket of the hepatitis C virus protease: implications for substrate recognition. Proc Natl Acad Sci U S A (1994) 1.57
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
A systematic nerve-sparing radical hysterectomy technique in invasive cervical cancer for preserving postsurgical bladder function. Int J Gynecol Cancer (2005) 1.54
Evaluation of posttreatment response of hepatocellular carcinoma with contrast-enhanced coded phase-inversion harmonic US: comparison with dynamic CT. Radiology (2001) 1.52
Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet (1990) 1.50
A retroperitoneal bronchogenic cyst with malignant change. Pathol Int (1999) 1.48
Contrast-enhanced subtraction harmonic sonography for evaluating treatment response in patients with hepatocellular carcinoma. AJR Am J Roentgenol (2001) 1.46
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet (1990) 1.44
Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning. Lancet (2001) 1.43
C1-C2 point monitoring of low-dose cyclosporin a given as a single daily dose in children with steroid-dependent relapsing nephrotic syndrome. Clin Nephrol (2005) 1.43
Hyperglycemia with hyperosmolal dehydration in nondiabetic infants. J Pediatr (1970) 1.42
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. Genomics (1999) 1.42
Spectrophotometric ass for D-ribose-5-phosphateketol-isomerase and for D-ribulose-5-phosphate 3-epimerase. Anal Biochem (1970) 1.42
GIDEON (Global Investigation of therapeutic DEcisions in hepatocellular carcinoma and Of its treatment with sorafeNib): second interim analysis. Int J Clin Pract (2013) 1.41
Randomised study of n of 1 trials versus standard practice. BMJ (1996) 1.41
Congenital malformations in offspring of phenylketonuric mothers. Pediatrics (1967) 1.40
Cyclopsychotride A, a biologically active, 31-residue cyclic peptide isolated from Psychotria longipes. J Nat Prod (1994) 1.40
Folic acid absorption in women with a history of pregnancy with neural tube defect. Am J Clin Nutr (1995) 1.39
Quality control studies on fetal bovine serum used in tissue culture. In Vitro (1974) 1.37
Transcriptional suppression of type 1 angiotensin II receptor gene expression by peroxisome proliferator-activated receptor-gamma in vascular smooth muscle cells. Endocrinology (2001) 1.36
Autism and macrocephaly. Lancet (1997) 1.33
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet (1999) 1.33
Multicenter prospective analysis of newly diagnosed hepatocellular carcinoma with respect to the percentage of Lens culinaris agglutinin-reactive alpha-fetoprotein. J Gastroenterol Hepatol (2001) 1.33
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet (1998) 1.33
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. Am J Med Genet (1984) 1.31
Design and rationale for the non-interventional Global Investigation of Therapeutic DEcisions in Hepatocellular Carcinoma and Of its Treatment with Sorafenib (GIDEON) study. Int J Clin Pract (2010) 1.31
Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts. Clin Chim Acta (1975) 1.29
Species identification and strain typing of Malassezia species stock strains and clinical isolates based on the DNA sequences of nuclear ribosomal internal transcribed spacer 1 regions. J Med Microbiol (2000) 1.29
Recovery and phylogenetic analysis of nifH sequences from diazotrophic bacteria associated with dead aboveground biomass of Spartina alterniflora. Appl Environ Microbiol (2001) 1.28
A stereoselective synthesis of the C10-C31 (BCDEF ring) portion of pinnatoxin A. Org Lett (2001) 1.26
Phosphorus cycling in a northern hardwood forest: biological and chemical control. Science (1984) 1.25
Human hyperargininemia: a mutation not expressed in skin fibroblasts? Am J Hum Genet (1977) 1.25
Hepatocellular carcinoma: depiction of tumor parenchymal flow with intermittent harmonic power Doppler US during the early arterial phase in dual-display mode. Radiology (2001) 1.24
Hazards of oral anticoagulants during pregnancy. JAMA (1980) 1.23
Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis. N Engl J Med (1973) 1.22
Malignant nerve sheath tumor of acoustic nerve. Arch Pathol Lab Med (1983) 1.22
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. J Med Genet (2000) 1.22
Gastrin gene expression is required for the proliferation and tumorigenicity of human colon cancer cells. Cancer Res (1996) 1.19
Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients. Am J Dis Child (1966) 1.19
The detection and identification of intermediates of the pentose phosphate cycle and related compounds. J Chromatogr (1968) 1.19
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet (1995) 1.18
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet (2002) 1.18
Arginase isoenzymes in human diploid fibroblasts. Biochem Biophys Res Commun (1975) 1.18
Physiological functions of the pentose phosphate pathway. Cell Biochem Funct (1986) 1.18
Mucormycosis. Laryngoscope (1977) 1.18
Morphology and laminar organization of electrophysiologically identified neurons in the primary auditory cortex in the cat. J Comp Neurol (1985) 1.18
Classic type of Kaposi's sarcoma and human herpesvirus 8 infection in Xinjiang, China. Pathol Int (2001) 1.17
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab (2013) 1.17
Endothelin receptor is coupled to phospholipase C via a pertussis toxin-insensitive guanine nucleotide-binding regulatory protein in vascular smooth muscle cells. J Clin Invest (1990) 1.16
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet (1999) 1.15
Renpenning syndrome comes into focus. Am J Med Genet A (2005) 1.15
Determination of the clonal origin of multiple human hepatocellular carcinomas by cloning and polymerase chain reaction of the integrated hepatitis B virus DNA. Hepatology (1999) 1.14
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. Am J Med Genet A (2003) 1.13
Activation of JNK and high expression level of CD133 predict a poor response to sorafenib in hepatocellular carcinoma. Br J Cancer (2012) 1.13
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr (1981) 1.13
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. Neuropediatrics (1984) 1.11
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet (1992) 1.10
Hypervascular hepatocellular carcinoma: detection with double arterial phase multi-detector row helical CT. Radiology (2001) 1.10
Mutations in the WUSCHEL gene of Arabidopsis thaliana result in the development of shoots without juvenile leaves. Plant J (2000) 1.09
The second wave of 2009 pandemic influenza A(H1N1) in New Zealand, January-October 2010. Euro Surveill (2011) 1.09
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet (2005) 1.08
Factors influencing the incidence of gonorrhoea and non-gonococcal urethritis in men in an industrial city. Br J Vener Dis (1970) 1.08
Clinical studies of enteritis caused by methicillin-resistant Staphylococcus aureus. Eur J Surg (2001) 1.08
Preparation and characteristics of standard reference samples of fibrous minerals for biological experiments. Ind Health (1997) 1.08
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics (1983) 1.07
Reaping maximum benefits from minimally invasive surgery. J Healthc Mater Manage (1994) 1.07
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci U S A (1995) 1.06
The costs of spinal cord injury. Paraplegia (1978) 1.06
Maternal phenylketonuria. Course of two pregnancies. Obstet Gynecol (1969) 1.06
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet (2008) 1.05
An animal model of cerebral infarction. Homologous blood clot emboli in rats. Stroke (1982) 1.05