Published in J Inherit Metab Dis on May 30, 2006
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis (2008) 1.41
Human chitinases and chitinase-like proteins as indicators for inflammation and cancer. Biomark Insights (2007) 1.40
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis (2011) 1.07
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab (2015) 0.83
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease. PLoS One (2016) 0.82
Optimal therapy in Gaucher disease. Ther Clin Risk Manag (2010) 0.82
Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr (2010) 0.81
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio (2016) 0.80
Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease. Drug Des Devel Ther (2015) 0.79
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med (1991) 6.09
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet (2000) 4.27
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest (1994) 3.30
Plasma creatinine determination. A new and specific Jaffe reaction method. Scand J Clin Lab Invest (1965) 3.04
Identification of a novel acidic mammalian chitinase distinct from chitotriosidase. J Biol Chem (2000) 2.90
The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem (1998) 2.31
Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. J Biol Chem (1995) 2.07
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis (2003) 1.52
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood (2000) 1.33
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol (2004) 1.28
Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem (2003) 1.16
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis (2001) 1.11
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis (2005) 1.11
Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos Trans R Soc Lond B Biol Sci (2003) 0.98
Clinically relevant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis (2001) 0.97
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr (2003) 0.90
Future perspectives for glycolipid research in medicine. Philos Trans R Soc Lond B Biol Sci (2003) 0.78
Comparison of the properties of a soluble form of glucocerebrosidase from human urine with those of the membrane-associated tissue enzyme. Biochim Biophys Acta (1986) 0.77
The Oxford classification of IgA nephropathy: rationale, clinicopathological correlations, and classification. Kidney Int (2009) 7.45
The Oxford classification of IgA nephropathy: pathology definitions, correlations, and reproducibility. Kidney Int (2009) 7.19
Renal-associated TLR2 mediates ischemia/reperfusion injury in the kidney. J Clin Invest (2005) 3.48
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab (2008) 2.60
The Oxford IgA nephropathy clinicopathological classification is valid for children as well as adults. Kidney Int (2010) 2.14
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab (2010) 2.13
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int (2004) 1.89
Kidney failure in mice lacking the tetraspanin CD151. J Cell Biol (2006) 1.85
Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases. Chem Biol (2005) 1.80
Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol (2005) 1.76
Evolution of mammalian chitinase(-like) members of family 18 glycosyl hydrolases. Genetics (2007) 1.73
High-throughput phosphotyrosine profiling using SH2 domains. Mol Cell (2007) 1.72
Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins. J Biol Chem (2002) 1.71
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab (2007) 1.61
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One (2007) 1.54
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem (2006) 1.52
Association of the tetraspanin CD151 with the laminin-binding integrins alpha3beta1, alpha6beta1, alpha6beta4 and alpha7beta1 in cells in culture and in vivo. J Cell Sci (2002) 1.51
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease. Int J Biochem Cell Biol (2005) 1.50
Assessing the statistical validity of proteomics based biomarkers. Anal Chim Acta (2007) 1.49
Diagnosis of Henoch-Schönlein purpura: renal or skin biopsy? Pediatr Nephrol (2003) 1.47
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Glycosphingolipids--nature, function, and pharmacological modulation. Angew Chem Int Ed Engl (2009) 1.41
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34
Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome. EMBO Rep (2006) 1.33
Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir. Am J Kidney Dis (2005) 1.31
Cyclic AMP-dependent protein kinase phosphorylates merlin at serine 518 independently of p21-activated kinase and promotes merlin-ezrin heterodimerization. J Biol Chem (2004) 1.30
Marked differences in tissue-specific expression of chitinases in mouse and man. J Histochem Cytochem (2005) 1.29
Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man. J Org Chem (2007) 1.28
Ultrasensitive in situ visualization of active glucocerebrosidase molecules. Nat Chem Biol (2010) 1.26
The biology of the Gaucher cell: the cradle of human chitinases. Int Rev Cytol (2006) 1.26
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis (2011) 1.25
The chitinase-like protein YKL-40: a possible biomarker of inflammation and airway remodeling in severe pediatric asthma. J Allergy Clin Immunol (2013) 1.25
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis (2013) 1.23
A Raft-derived, Pak1-regulated entry participates in alpha2beta1 integrin-dependent sorting to caveosomes. Mol Biol Cell (2008) 1.23
Glycosphingolipids and insulin resistance. Prog Lipid Res (2009) 1.23
Hematopoietic stem cell mobilization therapy accelerates recovery of renal function independent of stem cell contribution. J Am Soc Nephrol (2005) 1.23
Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol (2002) 1.23
Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J Clin Endocrinol Metab (2007) 1.22
Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease. Mol Cell Proteomics (2007) 1.21
Role of the immune system in the pathogenesis of idiopathic nephrotic syndrome. Clin Sci (Lond) (2004) 1.20
Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis (2006) 1.16
Prevention of chronic kidney and vascular disease: toward global health equity--the Bellagio 2004 Declaration. Kidney Int Suppl (2005) 1.16
Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem (2003) 1.16
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl (2008) 1.15
Podocyte foot process effacement is not correlated with the level of proteinuria in human glomerulopathies. Kidney Int (2004) 1.14
Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis. Kidney Int (2008) 1.14
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC Neurol (2010) 1.13
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis (2011) 1.11
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis (2005) 1.11
Protection against renal ischemia reperfusion injury by CD44 disruption. J Am Soc Nephrol (2005) 1.10
Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice. Hepatology (2009) 1.09
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. J Inherit Metab Dis (2012) 1.09
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease. Ann Neurol (2005) 1.08
CD44 deficiency increases tubular damage but reduces renal fibrosis in obstructive nephropathy. J Am Soc Nephrol (2004) 1.08
Reducing glycosphingolipid content in adipose tissue of obese mice restores insulin sensitivity, adipogenesis and reduces inflammation. PLoS One (2009) 1.08
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin Chem (2007) 1.07
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis (2011) 1.07
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis (2014) 1.06
Tissue-type plasminogen activator modulates inflammatory responses and renal function in ischemia reperfusion injury. J Am Soc Nephrol (2005) 1.06
Nef proteins from simian immunodeficiency virus-infected chimpanzees interact with p21-activated kinase 2 and modulate cell surface expression of various human receptors. J Virol (2004) 1.05
Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta (2007) 1.05
Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochim Biophys Acta (2007) 1.04
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One (2012) 1.04
Pro-inflammatory delipidizing cytokines reduce adiponectin secretion from human adipocytes without affecting adiponectin oligomerization. J Endocrinol (2007) 1.03
Urothelial CD44 facilitates Escherichia coli infection of the murine urinary tract. J Immunol (2006) 1.03
Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology (2003) 1.03
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet (2002) 1.02
Paradoxical increase in TAG and DAG content parallel the insulin sensitizing effect of unilateral DGAT1 overexpression in rat skeletal muscle. PLoS One (2011) 1.01
Acute kidney injury during therapy with an antisense oligonucleotide directed against PCSK9. Am J Kidney Dis (2013) 1.00
Cost-effectiveness of enzyme replacement therapy for Fabry disease. Orphanet J Rare Dis (2013) 1.00
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain (2010) 1.00