Parenti G - Search Results

1

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F. Esposito G, et al. Among authors: parenti g. Hum Mutat. 2010 Dec;31(12):1294-303. doi: 10.1002/humu.21359. Epub 2010 Nov 16. Hum Mutat. 2010. PMID: 20848650

2

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Esposito G, et al. Among authors: parenti g. Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9290. Hum Mutat. 2004. PMID: 15532022

3

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F. Daniele A, et al. Among authors: parenti g. FEBS J. 2009 Apr;276(7):2048-59. doi: 10.1111/j.1742-4658.2009.06940.x. FEBS J. 2009. PMID: 19292873 Free article.

4

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

Di Dato F, Spadarella S, Puoti MG, Caprio MG, Pagliardini S, Zuppaldi C, Vallone G, Fecarotta S, Esposito G, Iorio R, Parenti G, Spagnuolo MI. Di Dato F, et al. Among authors: parenti g. Nutrients. 2019 Oct 7;11(10):2397. doi: 10.3390/nu11102397. Nutrients. 2019. PMID: 31591370 Free PMC article.

5

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: parenti g. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764

6

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: parenti g. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

7

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.

Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F. Catanzano F, et al. Among authors: parenti g. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16. J Inherit Metab Dis. 2010. PMID: 20157782 Free PMC article.

8

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.

Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G. Terrone G, et al. Among authors: parenti g. Neurology. 2014 Jan 7;82(1):e1-4. doi: 10.1212/01.wnl.0000438217.31437.72. Neurology. 2014. PMID: 24379101 No abstract available.

9

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E. Cappuccio G, et al. Among authors: parenti g. Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591. Neurology. 2014. PMID: 25024447 No abstract available.

10

Mucopolysaccharidosis VI: the Italian experience.

Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, Sala S, Sorge G, Parini R. Scarpa M, et al. Among authors: parenti g. Eur J Pediatr. 2009 Oct;168(10):1203-6. doi: 10.1007/s00431-008-0910-z. Epub 2009 Jan 7. Eur J Pediatr. 2009. PMID: 19130082

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