Gatti R - Search Results

1

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM. Sebastio G, et al. Among authors: gatti r. J Med Genet. 1991 Apr;28(4):241-3. doi: 10.1136/jmg.28.4.241. J Med Genet. 1991. PMID: 1856829 Free PMC article.

2

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

Parenti G, Filocamo M, Titomanlio L, Rizzolo G, Silvestro E, Perretti A, Gatti R, Andria G. Parenti G, et al. Among authors: gatti r. Clin Genet. 1998 Apr;53(4):281-5. doi: 10.1111/j.1399-0004.1998.tb02697.x. Clin Genet. 1998. PMID: 9650766

3

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.

Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E, Burlina AB, Dionisi Vici C, Di Rocco M, Furlan F, Torcoletti M, Papadia F, Donati A, Benigno V, Andria G. Melis D, et al. Among authors: gatti r. Clin Endocrinol (Oxf). 2005 Jul;63(1):19-25. doi: 10.1111/j.1365-2265.2005.02292.x. Clin Endocrinol (Oxf). 2005. PMID: 15963056

4

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: gatti r. 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.

5

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

Mosna G, Fattore S, Tubiello G, Brocca S, Trubia M, Gianazza E, Gatti R, Danesino C, Minelli A, Piantanida M. Mosna G, et al. Among authors: gatti r. Hum Genet. 1992 Nov;90(3):247-50. doi: 10.1007/BF00220071. Hum Genet. 1992. PMID: 1487238

6

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R. Regis S, et al. Among authors: gatti r. J Med Genet. 1996 Mar;33(3):251-2. doi: 10.1136/jmg.33.3.251. J Med Genet. 1996. PMID: 8728704 Free PMC article.

7

Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A. Di Rocco M, et al. Among authors: gatti r. J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977. J Inherit Metab Dis. 2000. PMID: 10896302 No abstract available.

8

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.

Regis S, Carrozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R. Regis S, et al. Among authors: gatti r. Hum Genet. 1995 Aug;96(2):233-5. doi: 10.1007/BF00207387. Hum Genet. 1995. PMID: 7635478

9

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R. Bonuccelli G, et al. Among authors: gatti r. Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x. Clin Genet. 1998. PMID: 9712538

10

Splicing mutation causes infantile Sandhoff disease.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Rizzuto N, Gatti R, Salviati A. Gomez-Lira M, et al. Among authors: gatti r. Am J Med Genet. 1998 Jan 23;75(3):330-3. Am J Med Genet. 1998. PMID: 9475608 No abstract available.

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