Published in Hum Mol Genet on December 03, 2007
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases. Orphanet J Rare Dis (2011) 1.72
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther (2010) 1.10
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis (2010) 1.09
Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res Rep Endocr Disord (2012) 1.08
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. PLoS One (2010) 1.06
Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights (2011) 0.96
Glycosaminoglycan storage disorders: a review. Biochem Res Int (2011) 0.96
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol (2010) 0.94
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. JIMD Rep (2014) 0.93
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis (2010) 0.93
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones. J Inherit Metab Dis (2010) 0.92
Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. Mol Genet Metab (2012) 0.91
Therapies for the bone in mucopolysaccharidoses. Mol Genet Metab (2014) 0.89
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug Des Devel Ther (2015) 0.89
Establishment of glycosaminoglycan assays for mucopolysaccharidoses. Metabolites (2014) 0.88
Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Mol Genet Metab Rep (2015) 0.88
Current and emerging management options for patients with Morquio A syndrome. Ther Clin Risk Manag (2013) 0.87
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab (2014) 0.86
Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications. J Anal Bioanal Tech (2014) 0.86
Intellectual and neurological functioning in Morquio syndrome (MPS IVa). J Inherit Metab Dis (2012) 0.86
Morquio A syndrome: diagnosis and current and future therapies. Pediatr Endocrinol Rev (2014) 0.85
Therapies of mucopolysaccharidosis IVA (Morquio A syndrome). Expert Opin Orphan Drugs (2013) 0.85
Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? Mol Genet Metab (2014) 0.85
Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. Expert Opin Orphan Drugs (2015) 0.83
Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of mucopolysaccharidosis VII mice. Stem Cells (2013) 0.83
Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers. Orphanet J Rare Dis (2011) 0.83
Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet (2016) 0.82
Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21. J Ind Microbiol Biotechnol (2010) 0.81
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. JIMD Rep (2015) 0.80
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. Hum Mutat (2014) 0.79
Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. PLoS One (2016) 0.78
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA. Korean J Pediatr (2012) 0.78
Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab (2016) 0.77
Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry. Nihon Masu Sukuriningu Gakkai Shi (2015) 0.76
Alpha Adrenergic Induction of Transport of Lysosomal Enzyme across the Blood-Brain Barrier. PLoS One (2015) 0.75
Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris. Sci Rep (2016) 0.75
Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis (2003) 2.24
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A (2005) 2.11
Clinical safety, tolerability, pharmacokinetics, and pharmacodynamics of the novel factor Xa inhibitor edoxaban in healthy volunteers. J Clin Pharmacol (2010) 1.98
Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. Proc Natl Acad Sci U S A (2004) 1.97
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci U S A (2002) 1.92
High resolution crystal structure of human β-glucuronidase reveals structural basis of lysosome targeting. PLoS One (2013) 1.58
Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. Cancer Res (2008) 1.55
Growth charts for patients affected with Morquio A disease. Am J Med Genet A (2008) 1.54
Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A (2008) 1.49
Pharmacokinetics, biotransformation, and mass balance of edoxaban, a selective, direct factor Xa inhibitor, in humans. Drug Metab Dispos (2012) 1.48
Negative Regulation of AKT Activation by BRCA1. Cancer Res (2008) 1.34
Carbonic anhydrase IV and XIV knockout mice: roles of the respective carbonic anhydrases in buffering the extracellular space in brain. Proc Natl Acad Sci U S A (2005) 1.33
Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. Proc Natl Acad Sci U S A (2004) 1.33
Carbonic anhydrase IX promotes tumor growth and necrosis in vivo and inhibition enhances anti-VEGF therapy. Clin Cancer Res (2012) 1.30
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab (2010) 1.30
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat (2005) 1.27
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab (2013) 1.26
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A (2004) 1.20
Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol (2002) 1.20
Characterization of CA XIII, a novel member of the carbonic anhydrase isozyme family. J Biol Chem (2003) 1.19
Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor. Proc Natl Acad Sci U S A (2007) 1.18
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Tsunami lung. J Anesth (2011) 1.14
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse. Mol Ther (2008) 1.14
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. Proc Natl Acad Sci U S A (2004) 1.13
Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice. Mol Ther (2005) 1.10
Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab (2006) 1.10
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther (2010) 1.10
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci U S A (2003) 1.09
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis (2010) 1.09
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet (2003) 1.08
Characterization of CA XV, a new GPI-anchored form of carbonic anhydrase. Biochem J (2005) 1.07
Carbonic anhydrase isozymes IX and XII in gastric tumors. World J Gastroenterol (2003) 1.06
Expression, assay, and structure of the extracellular domain of murine carbonic anhydrase XIV: implications for selective inhibition of membrane-associated isozymes. J Biol Chem (2003) 1.04
Structure, function and applications of carbonic anhydrase isozymes. Bioorg Med Chem (2012) 1.04
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab (2013) 1.02
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. Proc Natl Acad Sci U S A (2007) 1.01
Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors. Proc Natl Acad Sci U S A (2006) 1.01
Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci U S A (2002) 1.01
Pathophysiology of hereditary hemochromatosis. Semin Liver Dis (2005) 1.01
Carbonic anhydrase II. A novel biomarker for gastrointestinal stromal tumors. Mod Pathol (2010) 1.01
Structure-activity relationship of flavonoids for inhibition of epidermal growth factor-induced transformation of JB6 Cl 41 cells. Mol Carcinog (2007) 1.01
Carbonic anhydrase IX is highly expressed in hereditary nonpolyposis colorectal cancer. Cancer Epidemiol Biomarkers Prev (2007) 1.00
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat (2009) 1.00
New strategies for enzyme replacement therapy for lysosomal storage diseases. Rejuvenation Res (2010) 1.00
Identification of influx transporter for the quinolone antibacterial agent levofloxacin. Mol Pharm (2007) 0.99
Carbonic anhydrase XIV is enriched in specific membrane domains of retinal pigment epithelium, Muller cells, and astrocytes. Proc Natl Acad Sci U S A (2005) 0.99
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
Carbonic anhydrase XIV identified as the membrane CA in mouse retina: strong expression in Müller cells and the RPE. Exp Eye Res (2005) 0.99
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab (2007) 0.98
Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. Neuro Oncol (2008) 0.97
Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease. Acta Paediatr (2009) 0.97
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. Mol Genet Metab (2007) 0.97
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Hum Mol Genet (2003) 0.97
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV. Proc Natl Acad Sci U S A (2009) 0.97
Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights (2011) 0.96
Functional demonstration of surface carbonic anhydrase IV activity on rat astrocytes. Glia (2006) 0.96
Infused Fc-tagged beta-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice. Proc Natl Acad Sci U S A (2008) 0.96
Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response. Proc Natl Acad Sci U S A (2007) 0.95