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510 results

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Page 1
Preemptive liver transplantation in a child with familial hypercholesterolemia.
Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Maiorana A, et al. Pediatr Transplant. 2011 Mar;15(2):E25-9. doi: 10.1111/j.1399-3046.2010.01383.x. Epub 2010 Sep 15. Pediatr Transplant. 2011. PMID: 20846238 Review.
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG. Loechner KJ, et al. Among authors: maiorana a. Diabetes. 2011 Jan;60(1):209-17. doi: 10.2337/db10-0731. Epub 2010 Oct 27. Diabetes. 2011. PMID: 20980454 Free PMC article.
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: maiorana a. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Maines E, Catesini G, Boenzi S, Mosca A, Candusso M, Dello Strologo L, Martinelli D, Maiorana A, Liguori A, Olivieri G, Taurisano R, Piemonte F, Rizzo C, Spada M, Dionisi-Vici C. Maines E, et al. Among authors: maiorana a. J Inherit Metab Dis. 2020 Nov;43(6):1173-1185. doi: 10.1002/jimd.12287. Epub 2020 Aug 23. J Inherit Metab Dis. 2020. PMID: 32681732
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation.
Maines E, Moretti M, Vitturi N, Gugelmo G, Fasan I, Lenzini L, Piccoli G, Gragnaniello V, Maiorana A, Soffiati M, Burlina A, Franceschi R. Maines E, et al. Among authors: maiorana a. Metabolites. 2023 Apr 16;13(4):563. doi: 10.3390/metabo13040563. Metabolites. 2023. PMID: 37110221 Free PMC article. Review.
510 results