Menni F - Search Results

1

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S. Venturi N, et al. Among authors: menni f. Hum Mutat. 2002 Sep;20(3):231. doi: 10.1002/humu.9051. Hum Mutat. 2002. PMID: 12203999

2

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.

Parini R, Menni F, Garavaglia B, Fesslova V, Melotti D, Massone ML, Lamantea E, Rimoldi M, Vizziello P, Gatti R. Parini R, et al. Among authors: menni f. Eur J Pediatr. 1998 Dec;157(12):992-5. doi: 10.1007/s004310050984. Eur J Pediatr. 1998. PMID: 9877038

3

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R. Parazzini C, et al. Among authors: menni f. AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400. AJNR Am J Neuroradiol. 2003. PMID: 12637289 Free PMC article. No abstract available.

4

Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

Furlan F, Santer R, Vismara E, Santus F, Sersale G, Menni F, Parini R. Furlan F, et al. Among authors: menni f. J Inherit Metab Dis. 2006 Oct;29(5):685. doi: 10.1007/s10545-006-0385-x. Epub 2006 Aug 12. J Inherit Metab Dis. 2006. PMID: 16906471

5

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M. Parini R, et al. Among authors: menni f. J Hepatol. 2009 Jan;50(1):215-21. doi: 10.1016/j.jhep.2008.08.019. Epub 2008 Oct 31. J Hepatol. 2009. PMID: 19012992 Free article.

6

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Diodato D, et al. Among authors: menni f. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17. JIMD Rep. 2015. PMID: 24740313 Free PMC article.

7

Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccines.

Cerutti M, De Lonlay P, Menni F, Parini R, Principi N, Esposito S. Cerutti M, et al. Among authors: menni f. Vaccine. 2015 Nov 27;33(48):6520-4. doi: 10.1016/j.vaccine.2015.10.073. Epub 2015 Oct 27. Vaccine. 2015. PMID: 26514424

8

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: menni f. Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9. Muscle Nerve. 2017. PMID: 27668838

9

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. Among authors: menni f. 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.

10

Hyperinsulinism plus hyperammonemia.

Parini R, Colombo F, Lombardi AM, Menni F, Beccaria L. Parini R, et al. Among authors: menni f. J Pediatr. 1998 Dec;133(6):800-1. doi: 10.1016/s0022-3476(98)70158-1. J Pediatr. 1998. PMID: 9842050 No abstract available.

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