Zammarchi E - Search Results

1

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Melis D, et al. Among authors: zammarchi e. Eur J Pediatr. 2005 Aug;164(8):501-8. doi: 10.1007/s00431-005-1657-4. Epub 2005 May 19. Eur J Pediatr. 2005. PMID: 15906092 Review.

2

Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems.

Leuzzi R, Fulceri R, Marcolongo P, Bánhegyi G, Zammarchi E, Stafford K, Burchell A, Benedetti A. Leuzzi R, et al. Among authors: zammarchi e. Biochem J. 2001 Jul 15;357(Pt 2):557-62. doi: 10.1042/0264-6021:3570557. Biochem J. 2001. PMID: 11439108 Free PMC article.

3

Structure and mutation analysis of the glycogen storage disease type 1b gene.

Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V. Marcolongo P, et al. Among authors: zammarchi e. FEBS Lett. 1998 Oct 2;436(2):247-50. doi: 10.1016/s0014-5793(98)01129-6. FEBS Lett. 1998. PMID: 9781688 Free article.

4

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: zammarchi e. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

5

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Among authors: zammarchi e. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

6

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Cavicchi C, Donati MA, Pasquini E, Poggi GM, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A. Cavicchi C, et al. Among authors: zammarchi e. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

7

[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: zammarchi e. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Ann Ital Med Int. 2004. PMID: 15678707 Italian.

8

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Filoni C, Caciotti A, Carraresi L, Donati MA, Mignani R, Parini R, Filocamo M, Soliani F, Simi L, Guerrini R, Zammarchi E, Morrone A. Filoni C, et al. Among authors: zammarchi e. Eur J Hum Genet. 2008 Nov;16(11):1311-7. doi: 10.1038/ejhg.2008.109. Epub 2008 Jun 18. Eur J Hum Genet. 2008. PMID: 18560446

9

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: zammarchi e. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

10

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: zammarchi e. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. Hum Mutat. 2005. PMID: 15714521

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