Menni F - Search Results

1

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

2

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.

3

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Parini R, Invernizzi F, Menni F, Garavaglia B, Melotti D, Rimoldi M, Salera S, Tosetto C, Taroni F. Parini R, et al. Among authors: menni f. J Inherit Metab Dis. 1999 Aug;22(6):733-9. doi: 10.1023/a:1005548201355. J Inherit Metab Dis. 1999. PMID: 10472533

4

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

5

[Fabry disease in Italy: first epidemiologic and collaborative study].

Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R, Menni F, Furlan F, Burlina A, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E. Ricci R, et al. Among authors: menni f. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Ann Ital Med Int. 2004. PMID: 15678707 Italian.

6

Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.

Belingheri M, Ghio L, Sala A, Menni F, Trespidi L, Ferraresso M, Berardinelli L, Rossi G, Edefonti A, Parini R. Belingheri M, et al. Among authors: menni f. Liver Transpl. 2007 May;13(5):762-4. doi: 10.1002/lt.21147. Liver Transpl. 2007. PMID: 17457869 Free article.

7

High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia.

Mastrangelo M, Canafoglia L, Franceschetti S, Oppezzo C, Mosca F, Menni F, Parini R, Ciano C, Scaioli V, Panzica F. Mastrangelo M, et al. Among authors: menni f. J Child Neurol. 2008 Mar;23(3):321-4. doi: 10.1177/0883073807308699. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182648

8

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.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

53 results

Search Page

Filters