|1|Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1. (23828321)
Zhou Y.... de Idiaquez Bakula D.A.
|2|Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study. (22976766)
Zimmermann A.... Weber M.M.
|3|A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. (24263462)
Pastores G.M.... Zahrieh D.
|4|Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. (22493294)
Lo S.M.... Mistry P.K.
|5|Coxarthritis as the presenting symptom of Gaucher disease type 1. (22046515)
Brisca G.... Martini A.
|6|The cytosolic I^-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. (20728381)
Dekker N.... Aerts J.M.
|7|High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. (20354791)
Taddei T.H.... Mistry P.K.
|8|Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. (20206881)
Grigorescu-Sido P.... Bucerzan S.
|9|The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). (20532983)
ChAcrin P.... Hartmann A.
|10|The risk of Parkinson's disease in type 1 Gaucher disease. (20177787)
Bultron G.... Mistry P.K.
|11|Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. (20336375)
Marshall J.... Cheng S.H.
|12|A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. (19195916)
Kishnani P.S.... Weinreb N.J.
|13|Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. (19608672)
Giraldo P.... Pocovi M.
|14|Life expectancy in Gaucher disease type 1. (18980271)
Weinreb N.J.... vom Dahl S.
|15|Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. (18317771)
Arnheim E.... Altarescu G.
|16|Review of miglustat for clinical management in Gaucher disease type 1. (18728838)
|17|A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. (18819093)
Weinreb N.... vom Dahl S.
|18|Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. (18347322)
Benko W.S.... Sidransky E.
|19|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. (18312448)
Sims K.B.... Rosenthal D.
|20|Bone- and bone marrow scintigraphy in Gaucher disease type 1. (18763370)
Mikosch P.... Hughes D.A.
|21|Neurological and brain MRS findings in patients with Gaucher disease type 1. (17560820)
Mercimek-Mahmutoglu S.... Stoeckler-Ipsiroglu S.
|22|A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. (17391996)
Zimran A.... Elstein D.
|23|Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. (17464953)
Grace M.E.... Desnick R.J.
|24|Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. (17609622)
Wine E.... Cohen I.J.
|25|Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil. (17414023)
Mota R.M.... Mankin H.
|26|Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. (17032149)
Wenstrup R.J.... Hangartner T.N.
|27|Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. (17499484)
van Breemen M.J.... Rezaee F.
|28|Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. (16527890)
De Fost M.... vom Dahl S.
|29|Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. (16247743)
Weinreb N.J.... Mistry P.
|30|Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. (15605411)
Miocic S.... Pittis M.G.
|31|Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. (12556220)
Pastores G.M.... Barnett N.L.
|32|Rebound hepatosplenomegaly in type 1 Gaucher disease. (12581195)
TA^th J.... MarA^di L.
|33|Bone marker alterations in patients with type 1 Gaucher disease. (12522660)
Ciana G.... Bembi B.
|34|Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. (12919144)
Concolino D.... Strisciuglio P.
|35|Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. (11241475)
Park J.K.... Sidransky E.
|36|Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (10796875)
Koprivica V.... Sidransky E.
|37|Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. (10757640)
Amaral O.... Grace M.E.
|38|Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
Boltshauser E.J.... Maria B.L.
|39|Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (10079102)
Grace M.E.... Desnick R.J.
|40|Pulmonary hypertension in type 1 Gaucher's disease. ComitAc d'Evaluation du Traitement de la Maladie de Gaucher. (9683246)
Belmatoug N.... Carbon C.
|41|A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. (10206680)
Choy F.Y.M.... Ben-Yoseph Y.
|42|Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. (7985893)
Grabowski G.A.... Brady R.O.
|43|Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. (8392397)
Pastores G.M.... Grabowski G.A.
|44|The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation. (1838035)
Aerts J.M.... Tsiapara A.
|45|Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients. (2225530)
Sa Miranda M.C.... Tager J.M.
|46|Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease. (2223847)
Aerts J.M.... Tager J.M.
|47|Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. (2324100)
Grace M.E.... Grabowski G.A.
|48|Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. (3353383)
Tsuji S.... Ginns E.I.
|49|Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. (3180993)
Graves P.N.... Smith F.I.
|50|Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. (4003396)
Grabowski G.A.... Gatt S.