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115 results

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Page 1
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
Stepien KM, Žnidar I, Kieć-Wilk B, Jones A, Castillo-García D, Abdelwahab M, Revel-Vilk S, Lineham E, Hughes D, Ramaswami U, Collin-Histed T. Stepien KM, et al. Among authors: ramaswami u. Front Pediatr. 2024 Aug 27;12:1439236. doi: 10.3389/fped.2024.1439236. eCollection 2024. Front Pediatr. 2024. PMID: 39346636 Free PMC article.
Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials.
Llewellyn A, Simmonds M, Marshall D, Harden M, Woods B, Humphries SE, Ramaswami U, Priestley-Barnham L, Fisher M, Tata LJ, Qureshi N. Llewellyn A, et al. Among authors: ramaswami u. Atherosclerosis. 2024 Sep 28:118598. doi: 10.1016/j.atherosclerosis.2024.118598. Online ahead of print. Atherosclerosis. 2024. PMID: 39343641 Free article.
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. Park J, et al. Among authors: ramaswami u. J Neurol. 2024 Oct;271(10):6888-6902. doi: 10.1007/s00415-024-12664-y. Epub 2024 Sep 3. J Neurol. 2024. PMID: 39225743 Free PMC article.
Fabry disease Enzyme Enhancement on migalastat Study: FEES.
Kugan M, D'Amore S, Mitra-Royhurst U, Patel S, Burke D, Heales S, Ramaswami U. Kugan M, et al. Among authors: ramaswami u. Clin Chim Acta. 2024 Jul 15;561:119843. doi: 10.1016/j.cca.2024.119843. Epub 2024 Jul 2. Clin Chim Acta. 2024. PMID: 38964569 Free article.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: ramaswami u. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T. Dalmia S, et al. Among authors: ramaswami u. Cochrane Database Syst Rev. 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. Cochrane Database Syst Rev. 2023. PMID: 38084761 Review.
115 results