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Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A. Di Rocco M, et al. Among authors: spada m. J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977. J Inherit Metab Dis. 2000. PMID: 10896302 No abstract available.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Ruiz SG, Garcia AC, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R; Members of the UCDC; Gazit E, Nagamani SCS, Erez A. Lerner S, et al. Among authors: spada m. Hum Genet. 2021 Oct;140(10):1471-1485. doi: 10.1007/s00439-021-02345-5. Epub 2021 Aug 21. Hum Genet. 2021. PMID: 34417872 Free PMC article.
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.
Dello Strologo L, Spada M, Vici CD, Atti MCD, Rheault M, Bjerre AK, Boyer O, Calvo PL, D'Antiga L, Harshman LA, Hörster F, Kölker S, Jahnukainen T, Knops N, Krug P, Krupka K, Lee A, Levtchenko E, Marks SD, Stojanovic J, Martelli L, Mazariegos G, Montini G, Shenoy M, Sidhu S, Spada M, Tangeras T, Testa S, Vijay S, Wac K, Wennberg L, Concepcion W, Garbade SF, Tönshoff B. Dello Strologo L, et al. Among authors: spada m. Mol Genet Metab. 2022 Nov;137(3):265-272. doi: 10.1016/j.ymgme.2022.09.010. Epub 2022 Oct 3. Mol Genet Metab. 2022. PMID: 36240580
Neurologic outcome following liver transplantation for methylmalonic aciduria.
Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, Longo D, Napolitano A, De Nictolis F, Cairoli S, Liccardo D, Caviglia S, Sidorina A, Olivieri G, Siri B, Bianchi R, Spagnoletti G, Dello Strologo L, Spada M, Dionisi-Vici C. Martinelli D, et al. Among authors: spada m. J Inherit Metab Dis. 2023 May;46(3):450-465. doi: 10.1002/jimd.12599. Epub 2023 Mar 15. J Inherit Metab Dis. 2023. PMID: 36861405
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. Among authors: spada m. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Free PMC article. Review.
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
Greco B, Caviglia S, Martinelli D, Capitello TG, Liccardo D, De Nictolis F, Pietrobattista A, Huemer M, Piga S, Olivieri G, Spagnoletti G, Spada M, Dionisi-Vici C. Greco B, et al. Among authors: spada m. J Inherit Metab Dis. 2023 Sep;46(5):906-915. doi: 10.1002/jimd.12648. Epub 2023 Jul 8. J Inherit Metab Dis. 2023. PMID: 37395264
778 results