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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.
Clinical and molecular findings in children with complex I deficiency.
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Bugiani M, et al. Among authors: spada m. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006. Biochim Biophys Acta. 2004. PMID: 15576045 Free article.
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Peduto A, Baumgartner MR, Verhoeven NM, Rabier D, Spada M, Nassogne MC, Poll-The BT, Bonetti G, Jakobs C, Saudubray JM. Peduto A, et al. Among authors: spada m. Mol Genet Metab. 2004 Jul;82(3):224-30. doi: 10.1016/j.ymgme.2004.04.010. Mol Genet Metab. 2004. PMID: 15234336
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: spada m. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454
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
738 results