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Page 1
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
Siri B, Greco B, Martinelli D, Cairoli S, Guarnera A, Longo D, Napolitano A, Parrillo C, Ravà L, Simeoli R, Spagnoletti G, Taurisano R, Veraldi S, Pietrobattista A, Spada M, Dionisi-Vici C. Siri B, et al. Among authors: taurisano r. J Inherit Metab Dis. 2025 Jan;48(1):e12843. doi: 10.1002/jimd.12843. J Inherit Metab Dis. 2025. PMID: 39776112 Free PMC article.
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C. Servais A, et al. Among authors: taurisano r. Kidney Int Rep. 2024 Sep 6;9(12):3362-3374. doi: 10.1016/j.ekir.2024.09.002. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698355 Free PMC article.
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Toscano A, et al. Among authors: taurisano r. Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. Orphanet J Rare Dis. 2023. PMID: 37891668 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: 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
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Among authors: taurisano r. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175
30 results