Search Results - "Burrow, Thomas Andrew"

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Authors: Balwani, Manisha Burrow, Thomas Andrew Charrow, Joel et al.

Source: Molecular Genetics & Metabolism. Feb2016, Vol. 117 Issue 2, p95-103. 9p.

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.

Authors: Cox, Timothy M Drelichman, Guillermo Cravo, Renata et al.

Source: Lancet. 6/13/2015, Vol. 385 Issue 9985, p2355-2362. 8p.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Authors: Cox, Timothy M. Drelichman, Guillermo Cravo, Renata et al.

Source: Blood. 4/27/2017, Vol. 129 Issue 17, p2375-2383. 9p. 1 Diagram, 4 Charts, 2 Graphs.

Four-year follow-up from the ENCORE trial: A randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapy.

Authors: Cox, Timothy M. Drelichman, Guillermo Balwani, Manisha et al.

Source: Molecular Genetics & Metabolism. Feb2016, Vol. 117 Issue 2, pS37-S37. 1p.

ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results.

Authors: Cox, Timothy M. Drelichman, Guillermo I. Cravo, Renata et al.

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, pS33-S34. 1p.

ENCORE: A randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients on enzyme replacement therapy who have reached therapeutic goals.

Authors: Cox, Timothy M. Drelichman, Guillermo Cravo, Renata et al.

Source: Molecular Genetics & Metabolism. Feb2014, Vol. 111 Issue 2, pS33-S33. 1p.

The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

Authors: Mistry PK Carwile JL Burrow TA et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 11; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3.

Authors: Dutta D Black J Montoya EA et al.

Source: Journal of medical genetics [J Med Genet] 2025 Mar 20; Vol. 62 (4), pp. 268-275. Date of Electronic Publication: 2025 Mar 20.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Authors: Abell K Chadwell SE Burrow TA et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 1052-1059. Date of Electronic Publication: 2020 Dec 05.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Authors: Mistry PK Batista JL Andersson HC et al.

Source: American journal of hematology [Am J Hematol] 2017 Sep; Vol. 92 (9), pp. 929-939. Date of Electronic Publication: 2017 Jul 07.

Publication Type: Clinical Trial; Journal Article; Multicenter Study

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Authors: Li SC Chen CM Goldstein JL et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S83-90. Date of Electronic Publication: 2010 Jan 08.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE