Published in Glycobiology on December 01, 1999
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci U S A (2003) 2.96
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One (2009) 2.90
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A (1999) 1.79
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J Clin Invest (2013) 1.44
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses. Nat Chem Biol (2012) 1.43
Monitoring autophagy in lysosomal storage disorders. Methods Enzymol (2009) 1.40
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. Assay Drug Dev Technol (2011) 1.28
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci U S A (2007) 1.25
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab (2008) 1.15
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse. Mol Ther (2008) 1.14
Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One (2012) 1.08
Animal models for mucopolysaccharidosis disorders and their clinical relevance. Acta Paediatr Suppl (2007) 1.04
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis (2003) 1.03
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J (2007) 1.02
Mechanism of shortened bones in mucopolysaccharidosis VII. Mol Genet Metab (2009) 1.02
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med (2013) 1.00
Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. Mol Ther (2012) 1.00
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J Inherit Metab Dis (2012) 0.99
Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease. Mol Ther (2013) 0.95
Novel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB. Comp Med (2009) 0.95
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Brain (2015) 0.93
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test. PLoS One (2011) 0.93
Animal models for metabolic, neuromuscular and ophthalmological rare diseases. Nat Rev Drug Discov (2013) 0.92
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice. Mol Ther (2011) 0.91
Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis (2010) 0.89
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A (2012) 0.89
Glycan-based biomarkers for mucopolysaccharidoses. Mol Genet Metab (2013) 0.88
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA. Genet Vaccines Ther (2007) 0.82
Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery. Mol Ther Methods Clin Dev (2016) 0.82
Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther (2015) 0.81
A genetic model of substrate reduction therapy for mucopolysaccharidosis. J Biol Chem (2012) 0.81
Neonatal Bone Marrow Transplantation in MPS IIIA Mice. JIMD Rep (2012) 0.80
Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases. EMBO Mol Med (2016) 0.79
Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet (2015) 0.79
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. Cell Mol Neurobiol (2008) 0.77
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab (2014) 0.76
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet (2014) 0.76
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice. Sci Rep (2017) 0.75
Timing of Gene Therapy Interventions: The Earlier, the Better. Mol Ther (2016) 0.75
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses. Mol Genet Metab (2016) 0.75
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Dis Model Mech (2016) 0.75
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. Rare Dis (2015) 0.75
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA. Metabolites (2014) 0.75
Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB. Metab Brain Dis (2017) 0.75
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA. J Inherit Metab Dis (2016) 0.75
Prevalence of lysosomal storage disorders. JAMA (1999) 9.06
The natural history of hepatitis C virus infection: host, viral, and environmental factors. JAMA (2000) 7.65
Disseminated Mycobacterium avium-intracellulare infection in homosexual men dying of acquired immunodeficiency. JAMA (1982) 5.19
Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns. Pediatrics (1999) 4.86
Sex differences in risk factors for hiv seroconversion among injection drug users: a 10-year perspective. Arch Intern Med (2001) 4.68
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Bone-marrow transplantation (second of two parts). N Engl J Med (1975) 4.11
Fringe is a glycosyltransferase that modifies Notch. Nature (2000) 4.09
An evaluation of an alternative to long-stay hospital care for frail elderly patients: I. The model of care. Age Ageing (1991) 4.03
Theresa's angel: when your best isn't enough. J Christ Nurs (2000) 3.34
Wildtype Kras2 can inhibit lung carcinogenesis in mice. Nat Genet (2001) 3.27
Metastasis stage, adjuvant treatment, and residual tumor are prognostic factors for medulloblastoma in children: conclusions from the Children's Cancer Group 921 randomized phase III study. J Clin Oncol (1999) 3.08
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol (1991) 2.79
Selection and characterization of eight phenotypically distinct lines of lectin-resistant Chinese hamster ovary cell. Cell (1975) 2.72
Virulence and hyphal formation of Candida albicans require the Ste20p-like protein kinase CaCla4p. Curr Biol (1997) 2.33
Ras links cellular morphogenesis to virulence by regulation of the MAP kinase and cAMP signalling pathways in the pathogenic fungus Candida albicans. Mol Microbiol (2001) 2.32
Specific changes in the oligosaccharide moieties of VSV grown in different lectin-resistnat CHO cells. Cell (1978) 2.30
High-frequency transfection of CHO cells using polybrene. Somat Cell Mol Genet (1986) 2.29
Stable nucleosome positioning and complete repression by the yeast alpha 2 repressor are disrupted by amino-terminal mutations in histone H4. Genes Dev (1992) 2.28
An adenovirus E1A mutant that demonstrates potent and selective systemic anti-tumoral efficacy. Nat Med (2000) 2.24
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23
The surgical and medical perioperative complications of anterior spinal fusion surgery in the thoracic and lumbar spine in adults. A review of 1223 procedures. Spine (Phila Pa 1976) (1995) 2.22
Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol (2001) 2.22
Survival and prognostic factors following radiation therapy and chemotherapy for ependymomas in children: a report of the Children's Cancer Group. J Neurosurg (1998) 2.22
Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. Proc Natl Acad Sci U S A (1994) 2.21
Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation. Ultrasound Obstet Gynecol (2003) 2.20
Translocation across Golgi vesicle membranes: a CHO glycosylation mutant deficient in CMP-sialic acid transport. Cell (1984) 2.15
Glycosylation mutants of animal cells. Annu Rev Genet (1984) 2.12
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol (2001) 2.01
The polypeptides of influenza virus. V. Localization of polypeptides in the virion by iodination techniques. Virology (1971) 2.00
Use of NHS Direct calls for surveillance of influenza--a second year's experience. Commun Dis Public Health (2002) 1.98
Complementation between mutants of CHO cells resistant to a variety of plant lectins. Somatic Cell Genet (1977) 1.98
A new mechanism for induced vitamin D deficiency in calcium deprivation. Nature (1987) 1.98
Characterization of macrophage sensitivity and resistance to anthrax lethal toxin. Infect Immun (1993) 1.97
The STAT3 inhibitor NSC 74859 is effective in hepatocellular cancers with disrupted TGF-beta signaling. Oncogene (2009) 1.97
Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum Genet (1989) 1.95
High resolution protein localization using soft X-ray microscopy. J Microsc (2001) 1.91
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci U S A (1990) 1.91
Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation. Proc Natl Acad Sci U S A (1990) 1.81
Chinese hamster ovary cells selected for resistance to the cytotoxicity of phytohemagglutinin are deficient in a UDP-N-acetylglucosamine--glycoprotein N-acetylglucosaminyltransferase activity. Proc Natl Acad Sci U S A (1975) 1.79
Glycosaminoglycan synthesis by cultured human skin fibroblasts after transformation with simian virus 40. J Biol Chem (1977) 1.77
Use of monoclonal antibodies to analyse the expression of a multi-tubulin family. FEBS Lett (1985) 1.72
Correlates of enrollment in methadone maintenance treatment programs differ by HIV-serostatus. AIDS (2000) 1.70
Communicating bronchopulmonary foregut malformations: classification and embryogenesis. J Pediatr Surg (1992) 1.68
Pathology of naturally occurring bovine tuberculosis in England and Wales. Vet J (2007) 1.67
NOD2-expressing bone marrow-derived cells appear to regulate epithelial innate immunity of the transplanted human small intestine. Gut (2007) 1.66
Somatic mutations of KIT in familial testicular germ cell tumours. Br J Cancer (2004) 1.64
Management and outcomes of delayed sternal closure after cardiac surgery in neonates and infants. Crit Care Med (2000) 1.63
Efficacy of a saccharin test for screening to detect abnormal mucociliary clearance. Br J Dis Chest (1984) 1.63
Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity. Biochem J (1986) 1.61
Chronic orbital inflammatory disease: parasitisation of orbital leucocytes by mollicute-like organisms. Br J Ophthalmol (1989) 1.61
Body fat distribution and non-insulin-dependent diabetes: comparison of a fiber-rich, high-carbohydrate, low-fat (23%) diet and a 35% fat diet high in monounsaturated fat. Am J Clin Nutr (1996) 1.60
Genetic mapping of new RFLPs at Xq27-q28. Genomics (1991) 1.60
Purification, physicochemical, and kinetic properties of liver acetyl-CoA:arylamine N-acetyltransferase from rapid acetylator rabbits. Mol Pharmacol (1987) 1.60
Matrix metalloproteinase inhibition attenuates left ventricular remodeling and dysfunction in a rat model of progressive heart failure. Circulation (2001) 1.59
Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. J Biol Chem (2001) 1.58
Structure of a human lysosomal sulfatase. Structure (1997) 1.57
WW6: an embryonic stem cell line with an inert genetic marker that can be traced in chimeras. Proc Natl Acad Sci U S A (1995) 1.56
Altered vitamin-D metabolism in pregnancy. Lancet (1977) 1.55
Prenatal testing for Duchenne and Becker muscular dystrophy. Lancet (1988) 1.54
Cloning and sequence analysis of the cDNA for the rat atrial natriuretic factor precursor. Nature (1984) 1.54
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat (1995) 1.54
Isolation of chlamydia in irradiated and non-irradiated McCoy cells. J Clin Pathol (1975) 1.53
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat (2001) 1.52
Are we getting the message out to all? Health information sources and ethnicity. Am J Prev Med (1999) 1.52
Value of x ray examinations of the cervical spine. Br Med J (Clin Res Ed) (1983) 1.52
Fringe modulation of Jagged1-induced Notch signaling requires the action of beta 4galactosyltransferase-1. Proc Natl Acad Sci U S A (2001) 1.51
Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. Biochem J (1990) 1.50
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet (2001) 1.49
The molecular-weight distribution of glycosaminoglycans. Biochem J (1973) 1.48
Human alpha-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci U S A (1991) 1.48
Isolation and properties of a transfer ribonucleic acid deficient in ribothymidine. Biochemistry (1970) 1.47
Inhibition of influenza viral glycoprotein synthesis by sugars. Microbios (1972) 1.46
alpha-L-iduronidase, beta-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substrates from heparin. Carbohydr Res (1979) 1.45
Acid-base status of blood from intraosseous and mixed venous sites during prolonged cardiopulmonary resuscitation and drug infusions. Crit Care Med (1999) 1.44
Low-stage medulloblastoma: final analysis of trial comparing standard-dose with reduced-dose neuraxis irradiation. J Clin Oncol (2000) 1.44
Microbial bioburden in endoscope reprocessing and an in-use evaluation of the high-level disinfection capabilities of Cidex PA. Gastroenterol Nurs (2000) 1.43
High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem (1982) 1.43
Hepatobiliary rhabdomyosarcoma in children: diagnostic radiology. Pediatr Radiol (1998) 1.42
The relationship between the concentration of ionised calcium and parathyroid hormone-related protein (PTHrP[1-34]) in the milk of mares. Equine Vet J (1997) 1.42
Prevalence of cardiovascular risk factors in an African, urban inner city community. West Afr J Med (2003) 1.41
The success of rectus and gracilis muscle flaps in the treatment of chronic pelvic sepsis and persistent perineal sinus: a systematic review. Colorectal Dis (2014) 1.41
Cloning of the human homologue of the murine flt3 ligand: a growth factor for early hematopoietic progenitor cells. Blood (1994) 1.41
Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Med J Aust (1982) 1.41
Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet (1998) 1.40
Mycoplasma-like organisms in Hodgkin's disease. Lancet (1996) 1.40
Effects of medulloblastoma resections on outcome in children: a report from the Children's Cancer Group. Neurosurgery (1996) 1.40
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet (2009) 1.39
Frozen blood products: clinically effective and potentially ideal for remote Australia. Anaesth Intensive Care (2013) 1.39
Postoperative evaluation after end-to-end subclavian-left coronary artery anastomosis in anomalous left coronary artery. J Thorac Cardiovasc Surg (1990) 1.39
Maintaining long-term central venous access by repetitive hepatic vein cannulation. J Pediatr Surg (1994) 1.39
Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass. Eur J Biochem (1985) 1.39
Pulmonary banding complicated by low origin of right pulmonary artery. Tex Heart Inst J (1993) 1.38
Are children born to young mothers at increased risk of maltreatment? Pediatrics (1993) 1.37
"Abnormal" illness behaviour in chronic fatigue syndrome and multiple sclerosis. BMJ (1995) 1.37
The alkaline cleavage and borohydride reduction of cartilage proteoglycan. Biochem J (1973) 1.36
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet (2001) 1.36
Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values. Biochem J (1987) 1.34