Publications by authors named "Thomas A Burrow"

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Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3.
Dibyendu Dutta, Jennifer Black, Emily A Montoya, Thomas Andrew Burrow, Joseph Shieh

J Med Genet· March 2025

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Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.
Debopam Samanta, Aravindhan Veerapandiyan, Thomas A Burrow, Murat Gokden

J Pediatr Neurosci· July 2021

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Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Katherine Abell, Sarah E Chadwell, Thomas Andrew Burrow, Ana Paula Pizzio Becker, Laurie Bailey

Am J Med Genet C Semin Med Genet· December 2020

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Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.
Debopam Samanta, Raghu Ramakrishnaiah, Shelley E Crary, Sukesh Sukumaran, Thomas A Burrow

Pediatr Neurol· July 2019

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M Lamb, Bart E Wagner, Thomas A Burrow

Ann Neurol· November 2018

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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.
Pramod K Mistry, Julie L Batista, Hans C Andersson, Manisha Balwani, Thomas Andrew Burrow

Am J Hematol· September 2017

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Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow

Blood· April 2017

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Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Manoj K Pandey, Thomas A Burrow, Reena Rani, Lisa J Martin, David Witte

Nature· March 2017

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Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, Mary K Kukolich, Ralitza H Gavrilova, Thomas A Burrow

Am J Med Genet A· March 2016

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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan

Mol Genet Metab· February 2016

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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
Andrew W Lindsley, Howard M Saal, Thomas A Burrow, Robert J Hopkin, Oleg Shchelochkov

J Allergy Clin Immunol· January 2016

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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.
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow

Lancet· June 2015

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Sahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Thomas A Burrow

Ann Clin Transl Neurol· June 2015

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CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
Thomas A Burrow, Ying Sun, Carlos E Prada, Laurie Bailey, Wujuan Zhang

Mol Genet Metab· February 2015

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Velaglucerase alfa in the treatment of Gaucher disease type 1.
Thomas A Burrow, Gregory A Grabowski

Clin Investig (Lond)· February 2011

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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Sing-Chung Li, Chiao-Ming Chen, Jennifer L Goldstein, Jer-Yuarn Wu, Emmanuelle Lemyre, Thomas Andrew Burrow

J Inherit Metab Dis· December 2010

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