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Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ. Mistry PK, et al. Among authors: prada ce. Hepatol Commun. 2025 Jan 7;9(1):e0621. doi: 10.1097/HC9.0000000000000621. eCollection 2025 Jan 1. Hepatol Commun. 2025. PMID: 39774103 Free PMC article.
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS. Savarirayan R, et al. Among authors: prada ce. Med. 2024 Dec 30:100566. doi: 10.1016/j.medj.2024.11.019. Online ahead of print. Med. 2024. PMID: 39740666 Free article.
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.
Capal JK, Ritter DM, Franz DN, Griffith M, Currans K, Kent B, Bebin EM, Northrup H, Koenig MK, Mizuno T, Vinks AA, Galandi SL, Zhang W, Setchell KDR, Kremer KM, Prada CM, Greiner HM, Holland-Bouley K, Horn PS, Krueger DA. Capal JK, et al. Among authors: prada cm. Ann Child Neurol Soc. 2024 Jun;2(2):106-119. doi: 10.1002/cns3.20070. Epub 2024 Apr 22. Ann Child Neurol Soc. 2024. PMID: 39726432 Free PMC article.
333 results