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Molecular Genetics and Metabolism|September 16, 2014
CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findingsThomas A Burrow, Ying Sun, Carlos E Prada, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 5, 2020
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United StatesKatherine Abell, Sarah E Chadwell, Thomas Andrew Burrow, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 29, 2020
Ophthalmic genetics in South AmericaMalena Daich Varela, Rene Moya, Patricio G Schlottmann, et al.
Acta Neuropathologica|October 27, 2012
Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibitionCarlos E Prada, Edwin Jousma, Tilat A Rizvi, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odysseyBenjamin M Helm, Zoe Powis, Carlos E Prada, et al.
Hepatology Communications|January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individualsPramod K Mistry, David Cassiman, Simon A Jones, et al.
Molecular Genetics and Metabolism|April 3, 2022
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, et al.
HGG Advances|May 20, 2026
Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACAK Nicole Weaver, Jan W Broeckel, Kari Brown, et al.
HGG Advances|May 23, 2022
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac developmentEliyahu Perl, Padmapriyadarshini Ravisankar, Manu E Beerens, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
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