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Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S. Pisciotta L, et al. Among authors: taurisano r. Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26. Atherosclerosis. 2017. PMID: 28881270
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Pichiecchio A, et al. Among authors: taurisano r. Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9. Muscle Nerve. 2017. PMID: 27668838
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Among authors: taurisano r. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Rokicki D, et al. Among authors: taurisano r. Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17. Clin Chim Acta. 2017. PMID: 28526534
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: taurisano r. 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
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