Published in Semin Hematol on October 01, 2004
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood (2010) 2.38
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol (2007) 1.74
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
Gaucher disease: clinical profile and therapeutic developments. Biologics (2010) 1.27
Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis (2009) 1.26
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet (2008) 1.16
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics (2009) 1.14
Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis (2011) 1.14
A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol (2011) 1.12
Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem (2009) 1.10
Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther (2012) 1.10
Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis (2011) 1.07
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet J Rare Dis (2012) 1.06
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica (2009) 1.06
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One (2010) 1.05
An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr (2010) 1.02
Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2012) 0.98
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. J Inherit Metab Dis (2006) 0.97
Hemorrhagic aspects of Gaucher disease. Rambam Maimonides Med J (2014) 0.96
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? J Inherit Metab Dis (2011) 0.90
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients. JIMD Rep (2012) 0.90
Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience. Adv Hematol (2013) 0.87
Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review. Nutr Metab (Lond) (2013) 0.86
Velaglucerase alfa. Nat Rev Drug Discov (2010) 0.85
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis (2012) 0.85
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev (2014) 0.85
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications. Orphanet J Rare Dis (2014) 0.83
Alpha versus beta: are we on the way to resolve the mystery as to which is the endogenous ligand for natural killer T cells? Clin Exp Immunol (2009) 0.83
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab (2015) 0.83
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis (2014) 0.82
Optimal therapy in Gaucher disease. Ther Clin Risk Manag (2010) 0.82
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood (2017) 0.82
Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options. Hosp Pharm (2016) 0.81
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience. J Inherit Metab Dis (2007) 0.81
Gaucher disease. J Clin Exp Hepatol (2014) 0.80
Profile of eliglustat tartrate in the management of Gaucher disease. Ther Clin Risk Manag (2016) 0.80
Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease. Am J Hematol (2015) 0.79
A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients. PLoS One (2013) 0.78
Bone turnover markers in patients with type 1 Gaucher disease. Hematol Rep (2012) 0.78
Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2. Proc Natl Acad Sci U S A (2016) 0.77
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. Am J Hematol (2016) 0.76
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1. Orphanet J Rare Dis (2015) 0.76
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Mol Genet Metab Rep (2016) 0.75
Gaucher's disease: report of 11 cases with review of literature. Pan Afr Med J (2015) 0.75
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet J Rare Dis (2017) 0.75
Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab (2015) 0.75
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials. Am J Hematol (2015) 0.75
Rethinking fatigue in Gaucher disease. Orphanet J Rare Dis (2016) 0.75
Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy. JIMD Rep (2016) 0.75
Velaglucerase alfa in the treatment of Gaucher disease type 1. Clin Investig (Lond) (2011) 0.75
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci (2017) 0.75
Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease. Am J Hematol (2016) 0.75
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. Core Evid (2016) 0.75
Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. PLoS One (2016) 0.75
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy. Mol Genet Metab Rep (2017) 0.75
Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int (2010) 0.75
Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry. Am J Hematol (2017) 0.75
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23
Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science (2003) 3.05
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol (2009) 2.79
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol (2011) 2.11
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? Am J Med Genet A (2003) 1.98
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A (2011) 1.90
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol (2003) 1.81
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med (2006) 1.72
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood (2009) 1.70
Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease. Anal Chem (2008) 1.69
Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions. Arterioscler Thromb Vasc Biol (2003) 1.68
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis (2011) 1.67
The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis (2010) 1.65
Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK. Proc Natl Acad Sci U S A (2014) 1.62
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab (2007) 1.61
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol (2007) 1.59
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood (2004) 1.59
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Dev Med Child Neurol (2011) 1.56
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Mol Genet Metab (2006) 1.51
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis (2004) 1.50
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. Ann Neurol (2002) 1.48
Orphan drug pricing may warrant a competition law investigation. BMJ (2010) 1.45
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem (2005) 1.45
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood (2005) 1.41
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet (2006) 1.41
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. J Child Neurol (2005) 1.40
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res (2005) 1.27
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet (2010) 1.25
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr (2004) 1.24
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr (2013) 1.22
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) (2011) 1.22
Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res (2010) 1.22
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet (2013) 1.22
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis (2010) 1.21
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics (2008) 1.20
Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr (2007) 1.18
Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci U S A (2006) 1.18
Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease. Eur J Haematol (2004) 1.18
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome. Mol Genet Metab (2010) 1.18
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med (2006) 1.17
Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood (2004) 1.17
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther (2009) 1.17
Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. Biochim Biophys Acta (2009) 1.16
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res (2008) 1.16
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr (2003) 1.16
Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med (2015) 1.15
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol (2005) 1.13
Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem (2011) 1.13
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
Bone marrow cells from myelodysplastic syndromes show altered immunophenotypic profiles that may contribute to the diagnosis and prognostic stratification of the disease: a pilot study on a series of 56 patients. Cytometry B Clin Cytom (2010) 1.12
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis (2005) 1.11
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool. Mol Genet Metab (2013) 1.10
Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem (2009) 1.10
Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther (2012) 1.10
Phospholipid vesicle fusion induced by saposin C. Arch Biochem Biophys (2003) 1.09
Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis (2011) 1.09
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet (2002) 1.08
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet (2011) 1.08
Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr (2007) 1.08
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat (2009) 1.07
Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse. PLoS One (2011) 1.06
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One (2010) 1.05
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A (2011) 1.05
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metab Dis (2010) 1.04
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet (2012) 1.04
Insights into Krabbe disease from structures of galactocerebrosidase. Proc Natl Acad Sci U S A (2011) 1.03
Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation. J Biol Chem (2003) 1.02
Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med (2005) 1.02
Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A (2012) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat (2008) 1.02
A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med (2010) 1.01
Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res (2005) 1.01
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol (2009) 1.00
Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages. J Lipid Res (2007) 0.99
Protease activation during in vivo pancreatitis is dependent on calcineurin activation. Am J Physiol Gastrointest Liver Physiol (2009) 0.99
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet (2007) 0.99
Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet (2008) 0.99
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am J Hum Genet (2005) 0.98
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. Mol Ther (2012) 0.97
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs (2009) 0.97
Tartrate-resistant acid phosphatase knockout mice. J Bone Miner Res (2003) 0.97
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. Mol Ther (2013) 0.97
The legal imperative for treating rare disorders. Orphanet J Rare Dis (2013) 0.97
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inherit Metab Dis (2010) 0.97
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet (2009) 0.97
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inherit Metab Dis (2011) 0.96
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Mol Genet Metab (2011) 0.96
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis (2010) 0.95