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Clinical quiz. Secondary carnitine deficiency due to celiac disease.
Fitzgerald JF, Troncone R, Roggero P, Pozzi E, Garavaglia B, Parini R, Carissimi E, Santus F, Piemontese P, Cataliotti E, Mosca F, Carnelli V. Fitzgerald JF, et al. Among authors: parini r. J Pediatr Gastroenterol Nutr. 2003 May;36(5):636, 646. doi: 10.1097/00005176-200305000-00008. J Pediatr Gastroenterol Nutr. 2003. PMID: 12774794 No abstract available.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Pichiecchio A, et al. Among authors: parini r. Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9. Muscle Nerve. 2017. PMID: 27668838
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Among authors: parini r. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
198 results