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29 results

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Page 1
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. Among authors: daniotti m. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Malvagia S, Ferri L, Della Bona M, Borsini W, Cirami CL, Dervishi E, Feriozzi S, Gasperini S, Motta S, Mignani R, Trezzi B, Pieruzzi F, Morrone A, Daniotti M, Donati MA, la Marca G. Malvagia S, et al. Among authors: daniotti m. Clin Chem Lab Med. 2021 Apr 30;59(9):1516-1526. doi: 10.1515/cclm-2021-0316. Print 2021 Aug 26. Clin Chem Lab Med. 2021. PMID: 33915609 Free article.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Among authors: daniotti m. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.
Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491.
Filippi L, Cavallaro G, Fiorini P, Daniotti M, Benedetti V, Cristofori G, Araimo G, Ramenghi L, La Torre A, Fortunato P, Pollazzi L, la Marca G, Malvagia S, Bagnoli P, Ristori C, Dal Monte M, Bilia AR, Isacchi B, Furlanetto S, Tinelli F, Cioni G, Donzelli G, Osnaghi S, Mosca F. Filippi L, et al. Among authors: daniotti m. BMC Pediatr. 2010 Nov 18;10:83. doi: 10.1186/1471-2431-10-83. BMC Pediatr. 2010. PMID: 21087499 Free PMC article. Clinical Trial.
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).
Filippi L, Fiorini P, Daniotti M, Catarzi S, Savelli S, Fonda C, Bartalena L, Boldrini A, Giampietri M, Scaramuzzo R, Papoff P, Del Balzo F, Spalice A, la Marca G, Malvagia S, Della Bona ML, Donzelli G, Tinelli F, Cioni G, Pisano T, Falchi M, Guerrini R. Filippi L, et al. Among authors: daniotti m. BMC Pediatr. 2012 Sep 5;12:144. doi: 10.1186/1471-2431-12-144. BMC Pediatr. 2012. PMID: 22950861 Free PMC article. Clinical Trial.
29 results