|1|Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. (23430552)
Adelino T.E.... Valadares E.R.
|2|Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1. (23828321)
Zhou Y.... de Idiaquez Bakula D.A.
|3|Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. (23339116)
Zimran A.... Grabowski G.A.
|4|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.
|5|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.
|6|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.
|7|Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. (20684885)
Altarescu G.... Zimran A.
|8|Coxarthritis as the presenting symptom of Gaucher disease type 1. (22046515)
Brisca G.... Martini A.
|9|The cytosolic I^-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. (20728381)
Dekker N.... Aerts J.M.
|10|Velaglucerase alfa in the treatment of Gaucher disease type 1. (21927713)
Burrow T.A.... Grabowski G.A.
|11|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.
|12|Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. (20206881)
Grigorescu-Sido P.... Bucerzan S.
|13|Anesthetic management in a pregnant woman with type 1 Gaucher disease]. (20499804)
Pinto J.... Amaral R.
|14|A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. (20439622)
Lukina E.... Peterschmitt M.J.
|15|The risk of Parkinson's disease in type 1 Gaucher disease. (20177787)
Bultron G.... Mistry P.K.
|16|Hyperferritinemia and iron overload in type 1 Gaucher disease. (20575041)
Stein P.... Mistry P.K.
|17|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.
|18|Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. (19608672)
Giraldo P.... Pocovi M.
|19|Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. (18317771)
Arnheim E.... Altarescu G.
|20|Attitudes of couples identified through screening as carriers of Gaucher disease type 1. (18651845)
Zuckerman S.... Sagi M.
|21|A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. (18819093)
Weinreb N.... vom Dahl S.
|22|Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. (18347322)
Benko W.S.... Sidransky E.
|23|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.
|24|Neurological and brain MRS findings in patients with Gaucher disease type 1. (17560820)
Mercimek-Mahmutoglu S.... Stoeckler-Ipsiroglu S.
|25|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.
|26|Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. (17464953)
Grace M.E.... Desnick R.J.
|27|Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. (17609622)
Wine E.... Cohen I.J.
|28|Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil. (17414023)
Mota R.M.... Mankin H.
|29|Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. (17032149)
Wenstrup R.J.... Hangartner T.N.
|30|Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. (17499484)
van Breemen M.J.... Rezaee F.
|31|Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. (16247743)
Weinreb N.J.... Mistry P.
|32|Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. (15605411)
Miocic S.... Pittis M.G.
|33|Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. (12803929)
|34|Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. (12556220)
Pastores G.M.... Barnett N.L.
|35|Bone marker alterations in patients with type 1 Gaucher disease. (12522660)
Ciana G.... Bembi B.
|36|Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. (12919144)
Concolino D.... Strisciuglio P.
|37|Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (10796875)
Koprivica V.... Sidransky E.
|38|Pulmonary hypertension in type 1 Gaucher's disease. ComitAc d'Evaluation du Traitement de la Maladie de Gaucher. (9683246)
Belmatoug N.... Carbon C.
|39|A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. (10206680)
Choy F.Y.M.... Ben-Yoseph Y.
|40|Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. (9236158)
Hollak C.E.... van Oers M.H.
|41|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.
|42|Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease. (7980395)
Meivar-Levy I.... Futerman A.H.
|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|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.
|47|Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. (3353383)
Tsuji S.... Ginns E.I.
|48|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.
|49|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.
|50|Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase. (3921758)