|1|Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1. (24577513)
Machaczka M.... Klimkowska M.
|2|Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment. (24835462)
Lukina E.... Peterschmitt J.M.
|3|Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. (24816856)
Kamath R.S.... Rosenthal D.I.
|4|Clinical utility of different bone marrow examination methods in diagnosis of adults with sporadic Gaucher disease type 1. (25188399)
Machaczka M.... Klimkowska M.
|5|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.
|6|Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1. (23828321)
Zhou Y.... de Idiaquez Bakula D.A.
|7|Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. (23339116)
Zimran A.... Grabowski G.A.
|8|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.
|9|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.
|10|Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. (20684885)
Altarescu G.... Zimran A.
|11|Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. (21883686)
Benedik-DolniA8ar M.... Kitanovski L.
|12|Coxarthritis as the presenting symptom of Gaucher disease type 1. (22046515)
Brisca G.... Martini A.
|13|Velaglucerase alfa in the treatment of Gaucher disease type 1. (21927713)
Burrow T.A.... Grabowski G.A.
|14|Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. (20206881)
Grigorescu-Sido P.... Bucerzan S.
|15|The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). (20532983)
ChAcrin P.... Hartmann A.
|16|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.
|17|Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. (20713962)
Lukina E.... Peterschmitt M.J.
|18|Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. (19265748)
Grabowski G.A.... vom Dahl S.
|19|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.
|20|Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (19047232)
Andersson H.... Yee J.
|21|Life expectancy in Gaucher disease type 1. (18980271)
Weinreb N.J.... vom Dahl S.
|22|Review of miglustat for clinical management in Gaucher disease type 1. (18728838)
|23|Attitudes of couples identified through screening as carriers of Gaucher disease type 1. (18651845)
Zuckerman S.... Sagi M.
|24|Bone- and bone marrow scintigraphy in Gaucher disease type 1. (18763370)
Mikosch P.... Hughes D.A.
|25|Neurological and brain MRS findings in patients with Gaucher disease type 1. (17560820)
Mercimek-Mahmutoglu S.... Stoeckler-Ipsiroglu S.
|26|Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. (16996765)
Sobreira E.... Grabowski G.A.
|27|Radiology of Gaucher disease (type 1) and bone manifestations: the Dutch experience. (17274590)
Maas M.... Aerts J.F.
|28|Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. (15605411)
Miocic S.... Pittis M.G.
|29|Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. (15468046)
Weinreb N.J.... Zimran A.
|30|Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. (12556220)
Pastores G.M.... Barnett N.L.
|31|Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. (12919144)
Concolino D.... Strisciuglio P.
|32|Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. (10804944)
Kauli R.... Cohen I.J.
|33|Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
Boltshauser E.J.... Maria B.L.
|34|Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
van Royen-Kerkhof A.... Beemer F.A.
|35|Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (9207436)
Ponce E.... Grabowski G.
|36|Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. (8741312)
Ida H.... Eto Y.
|37|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.
|38|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.
|39|Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. (2495719)
Bergmann J.E.... Grabowski G.A.
|40|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.
|41|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.
|42|Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase. (3921758)