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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: motta s. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A. Faverio P, et al. Among authors: motta s. Int J Mol Sci. 2019 Jan 15;20(2):327. doi: 10.3390/ijms20020327. Int J Mol Sci. 2019. PMID: 30650529 Free PMC article. Review.
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
Pontesilli S, Baldoli C, Rosa PAD, Cattoni A, Bernardo ME, Meregalli P, Gasperini S, Motta S, Fumagalli F, Tucci F, Baciga F, Consiglieri G, Canonico F, De Lorenzo P, Chiapparini L, Gentner B, Aiuti A, Biondi A, Rovelli A, Parini R. Pontesilli S, et al. Among authors: motta s. J Pediatr. 2022 Jan;240:297-301.e5. doi: 10.1016/j.jpeds.2021.09.020. Epub 2021 Sep 20. J Pediatr. 2022. PMID: 34547335
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: motta s. 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.
335 results