Search Results - "Burrow, Thomas"

Clinical delineation of the PACS1-related syndrome-Report on 19 patients.

Authors: Schuurs‐Hoeijmakers, Janneke H. M. Landsverk, Megan L. Foulds, Nicola et al.

Source: American Journal of Medical Genetics. Part A; Mar2016, Vol. 170A Issue 3, p670-675, 6p

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.

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: Clinical, histopathologic, and biochemical findings.

Authors: Burrow, Thomas A. Sun, Ying Prada, Carlos E. et al.

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, p233-241. 9p.

Glucosylceramide partnership with immunological villain in Gaucher disease.

Authors: Pandey, Manoj K Burrow, Thomas A Rani, Reena et al.

Source: Molecular Genetics & Metabolism. Jan2017, Vol. 120 Issue 1/2, pS105-S105. 1p.

C5a drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.

Authors: Pandey, Manoj K. Burrow, Thomas A. Gross, Christina et al.

Source: Immunobiology. Oct2016, Vol. 221 Issue 10, p1213-1213. 1p.

Description of later onset presentations of neuronal ceroid lipofuscinosis due to mutations in CTSD.

Authors: Burrow, Thomas A. Spaeth, Christine G. Sisk, Robert E. et al.

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, pS26-S27. 1p.

Abnormal pathology findings in a patient with Gaucher disease type 3 treated with enzyme replacement therapy

Authors: Burrow, Thomas Witte, David Bailey, Laurie et al.

Source: Molecular Genetics & Metabolism. Feb2013, Vol. 108 Issue 2, pS27-S27. 1p.

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Authors: Esmaeeli Nieh, Sahar Madou, Maura R. Z. Sirajuddin, Minhajuddin et al.

Source: Annals of Clinical & Translational Neurology. Jun2015, Vol. 2 Issue 6, p623-635. 13p.

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.

Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.

Authors: Samanta, Debopam Ramakrishnaiah, Raghu Crary, Shelley E. et al.

Source: Pediatric Neurology. Jul2019, Vol. 96, p37-39. 3p.

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.

Immune cells attack and neurodegeneration in Gaucher disease.

Authors: Pandey, Manoj K. Caballero, Madison Tinch, Stuart L. et al.

Source: Molecular Genetics & Metabolism. Feb2016, Vol. 117 Issue 2, pS90-S90. 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.

Combination therapy (eliglustat + velaglucerase alfa) in a pediatric patient with Gaucher disease type 1 and hereditary spherocytosis.

Authors: Bailey, Laurie Ambruso, Daniel Grabowski, Gregory et al.

Source: Molecular Genetics & Metabolism. Feb2015, Vol. 114 Issue 2, pS17-S17. 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

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Authors: Metz KA Teng X Coppens I et al.

Source: Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 766-780. Date of Electronic Publication: 2018 Nov 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol