|1|Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease. (24195576)
Machaczka M.... Klimkowska M.
|2|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.
|3|Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. (23339116)
Zimran A.... Grabowski G.A.
|4|Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. (22692814)
Khan A.... Mistry P.K.
|5|Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. (20684885)
Altarescu G.... Zimran A.
|6|Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. (21883686)
Benedik-DolniA8ar M.... Kitanovski L.
|7|Velaglucerase alfa in the treatment of Gaucher disease type 1. (21927713)
Burrow T.A.... Grabowski G.A.
|8|Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype. (20425796)
Lo S.M.... Mistry P.K.
|9|Anesthetic management in a pregnant woman with type 1 Gaucher disease]. (20499804)
Pinto J.... Amaral R.
|10|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.
|11|Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease. (20336596)
|12|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.
|13|Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease. (20419464)
Greenwood A.... Altarescu G.
|14|Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review. (20629148)
Alonso-Canovas A.... Bhatia K.P.
|15|Hyperferritinemia and iron overload in type 1 Gaucher disease. (20575041)
Stein P.... Mistry P.K.
|16|Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease. (20110029)
Boiret-DuprAc N.... Berger M.G.
|17|Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. (19265748)
Grabowski G.A.... vom Dahl S.
|18|Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. (19732054)
Mistry P.K.... Weinreb N.J.
|19|Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (19047232)
Andersson H.... Yee J.
|20|Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention. (18155675)
Groener J.E.... Aerts J.M.
|21|Attitudes of couples identified through screening as carriers of Gaucher disease type 1. (18651845)
Zuckerman S.... Sagi M.
|22|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.
|23|Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. (17919546)
Pastores G.M.... Zimran A.
|24|Radiology of Gaucher disease (type 1) and bone manifestations: the Dutch experience. (17274590)
Maas M.... Aerts J.F.
|25|Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease. (16835986)
Lin H.Y.... Wraith J.E.
|26|Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. (15468046)
Weinreb N.J.... Zimran A.
|27|Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. (12803929)
|28|Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. (11814307)
Drugan C.... Craciun A.M.
|29|Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. (11241475)
Park J.K.... Sidransky E.
|30|Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. (11345203)
Tsuboi K.... Ueda R.
|31|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.
|32|Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
Boltshauser E.J.... Maria B.L.
|33|Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta- glucosidase mutation. (10340647)
Wasserstein M.P.... Desnick R.J.
|34|Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement. (10197233)
Martinez Odrizola P.... Miguel F.
|35|Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
van Royen-Kerkhof A.... Beemer F.A.
|36|First long-term results of imiglucerase therapy of type 1 Gaucher disease. (9512964)
Niederau C.... HAoussinger D.
|37|Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. (9541479)
Ida H.... Eto Y.
|38|Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. (9028460)
Choy F.Y.... Ferreira P.
|39|Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (9207436)
Ponce E.... Grabowski G.
|40|Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease. (9316550)
Hollak C.E.... van Oers M.H.
|41|Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. (9236158)
Hollak C.E.... van Oers M.H.
|42|Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non- Jewish patients. (9153297)
Grace M.E.... Pastores G.M.
|43|Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. (8967670)
Dawson A.... Beutler E.
|44|Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. (8889591)
Amaral O.... Sa Miranda M.C.
|45|Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. (8741312)
Ida H.... Eto Y.
|46|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.
|47|A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient. (7915932)
Choy F.Y.... Yong S.L.
|48|Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. (8450045)
van Weely S.... Aerts J.M.
|49|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.
|50|Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase. (3921758)