Search details
1.
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Mol Genet Metab
; 135(2): 154-162, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34972655
2.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Mol Genet Metab
; 136(1): 4-21, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35367141
3.
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.
Am J Hematol
; 97(10): 1337-1347, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36054609
4.
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
Mol Genet Metab
; 132(2): 100-111, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33485799
5.
GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.
Mol Genet Metab
; 129(2): 35-46, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31761523
6.
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
J Inherit Metab Dis
; 43(3): 564-573, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31613991
7.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30414226
8.
Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.
Blood Cells Mol Dis
; 68: 211-217, 2018 02.
Article
in English
| MEDLINE | ID: mdl-27816427
9.
Hepatocellular carcinoma in Gaucher disease: an international case series.
J Inherit Metab Dis
; 41(5): 819-827, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29423829
10.
Gaucher disease: Progress and ongoing challenges.
Mol Genet Metab
; 120(1-2): 8-21, 2017.
Article
in English
| MEDLINE | ID: mdl-27916601
11.
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.
Mol Genet Metab
; 120(1-2): 1-7, 2017.
Article
in English
| MEDLINE | ID: mdl-27866832
12.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
J Med Genet
; 52(5): 353-8, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25795794
13.
MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association.
Blood
; 131(22): 2500-2501, 2018 05 31.
Article
in English
| MEDLINE | ID: mdl-29650800
14.
Enzyme replacement and substrate reduction therapy for Gaucher disease.
Cochrane Database Syst Rev
; (3): CD010324, 2015 Mar 27.
Article
in English
| MEDLINE | ID: mdl-25812601
15.
Encore! Oral therapy for type 1 Gaucher disease.
Blood
; 129(17): 2337-2338, 2017 04 27.
Article
in English
| MEDLINE | ID: mdl-28450571
16.
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
J Inherit Metab Dis
; 36(3): 543-53, 2013 May.
Article
in English
| MEDLINE | ID: mdl-22976765
17.
Oral small molecule therapy for lysosomal storage diseases.
Pediatr Endocrinol Rev
; 11 Suppl 1: 77-90, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24380126
18.
The international cooperative Gaucher group (ICCG) Gaucher registry.
Best Pract Res Clin Haematol
; 36(4): 101522, 2023 12.
Article
in English
| MEDLINE | ID: mdl-38092479
19.
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158.
J Clin Med
; 12(9)2023 May 04.
Article
in English
| MEDLINE | ID: mdl-37176709
20.
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Br J Haematol
; 158(4): 528-38, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22640238