Published in Blood Cells Mol Dis on October 22, 2012
Ambroxol as a Treatment for Parkinson's Disease Dementia | NCT02914366
Ambroxol as a Novel Disease Modifying Treatment for Lewy Body Dementia | NCT04405596
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Glucocerebrosidase is shaking up the synucleinopathies. Brain (2014) 1.50
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Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development. Stem Cells (2014) 0.98
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Commentary on "Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al. Blood Cells Mol Dis (2012) 0.75
Stabilization of glucocerebrosidase by active-site occupancy. ACS Chem Biol (2017) 0.75
A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells. Diseases (2017) 0.75
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Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood (2011) 1.68
Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood (2006) 1.47
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement. Isr Med Assoc J (2003) 1.41
Uveitis in Gaucher disease. Am J Ophthalmol (2005) 1.39
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis (2006) 1.34
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood (2010) 1.30
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull (2003) 1.23
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther (2007) 1.18
Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis (2002) 1.13
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke (2002) 1.10
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood (2007) 1.09
Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis (2005) 1.09
An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw (2006) 1.07
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis (2010) 1.05
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis (2007) 1.03
Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci (2003) 1.00
Female sex bias in human embryonic stem cell lines. Stem Cells Dev (2011) 0.99
Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis (2004) 0.98
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Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand (2004) 0.98
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Survey of hematological aspects of Gaucher disease. Hematology (2005) 0.96
Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship. Am J Obstet Gynecol (2007) 0.95
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Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol (2002) 0.91
Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. J Clin Gastroenterol (2004) 0.90
A safety trial of high dose glyceryl triacetate for Canavan disease. Mol Genet Metab (2011) 0.90
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med (2005) 0.90
Arterial wall properties and Womersley flow in Fabry disease. BMC Cardiovasc Disord (2002) 0.90
The effects of maternal age and parity on maternal and neonatal outcome. Arch Gynecol Obstet (2014) 0.89
Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab (2010) 0.89
Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Eur Radiol (2001) 0.88
Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early Access Program results from Jerusalem. Blood Cells Mol Dis (2011) 0.88
Disease severity in sibling pairs with type 1 Gaucher disease. J Inherit Metab Dis (2010) 0.88
Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol (2002) 0.87
Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J (2008) 0.87
Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience. Adv Hematol (2013) 0.87
Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab (2004) 0.86
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn (2011) 0.86
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention. Blood Cells Mol Dis (2007) 0.86
Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med (2010) 0.85
Dental profile of patients with Gaucher disease. BMC Oral Health (2003) 0.85
Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome? Fertil Steril (2007) 0.85
Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease. Clin Rheumatol (2010) 0.85
Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells Mol Dis (2012) 0.85
C7 complement deficiency in an Israeli Arab village. Am J Med Genet (2002) 0.84
X-inactivation in Fabry disease. Gene (2012) 0.84
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet J Rare Dis (2013) 0.84
Enzyme replacement therapy for mild patients with Gaucher disease. Am J Hematol (2009) 0.83
Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol (2004) 0.83
Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model. Blood Cells Mol Dis (2004) 0.82
Hip arthroplasty in patients with Gaucher disease. Blood Cells Mol Dis (2010) 0.82
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. J Inherit Metab Dis (2010) 0.82
Iliopsoas hematoma in a young patient with type I Gaucher disease. Isr Med Assoc J (2003) 0.82
National health budgets for expensive orphan drugs: Gaucher disease in Israel as a model. Blood Cells Mol Dis (2006) 0.82
Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease. Mov Disord (2011) 0.81
Management of Gaucher disease: enzyme replacement therapy. Pediatr Endocrinol Rev (2014) 0.81
Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease. Eur J Gastroenterol Hepatol (2005) 0.81
Iliopsoas haematoma in Gaucher disease. J Inherit Metab Dis (2006) 0.81
The role of leptin in fetal growth: a short review from conception to delivery. Eur J Obstet Gynecol Reprod Biol (2007) 0.80
No justification for very high-dose enzyme therapy for patients with type III Gaucher disease. J Inherit Metab Dis (2007) 0.80
PGD for fragile X syndrome: ovarian function is the main determinant of success. Hum Reprod (2010) 0.80
Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease. Blood Cells Mol Dis (2003) 0.80
Ozone administration reduces reperfusion injury in an isolated rat heart model. J Card Surg (2007) 0.80
Rheological determinants in patients with Gaucher disease and internal inflammation. Am J Hematol (2004) 0.79
Amyloidosis and gastric bleeding in a patient with Gaucher disease. J Clin Gastroenterol (2003) 0.79
Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. Immunol Cell Biol (2009) 0.79
Aggregation of red blood cells in patients with Gaucher disease. Br J Haematol (2006) 0.79
Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding. Br J Haematol (2011) 0.78
TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease. Cytokine (2005) 0.78
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest (2015) 0.78
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int (2012) 0.78
Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned? Prenat Diagn (2010) 0.78
D-dimer assay in Gaucher disease: correlation with severity of bone and lung involvement. Am J Hematol (2003) 0.78
Screening for Gaucher disease: new challenges. Isr Med Assoc J (2014) 0.77
Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: results of a pilot study in Israel. Am J Med Genet A (2007) 0.77
Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease. Pediatr Cardiol (2009) 0.77
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. Blood Cells Mol Dis (2003) 0.77
Fabry disease in an oligosymptomatic male. Isr Med Assoc J (2011) 0.77
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. Blood Cells Mol Dis (2010) 0.77
Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool. Isr Med Assoc J (2012) 0.77
Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis (2010) 0.77
Evolving features in type 3 Gaucher disease on long-term enzyme replacement therapy. Blood Cells Mol Dis (2012) 0.77