Leuzzi V - Search Results

1

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V. Novelli M, et al. Among authors: leuzzi v. Mov Disord Clin Pract. 2024 Sep;11(9):1072-1084. doi: 10.1002/mdc3.14157. Epub 2024 Jul 12. Mov Disord Clin Pract. 2024. PMID: 39001623

2

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Carducci C, Leuzzi V, Scuderi M, De Negri AM, Gabrieli CB, Antonozzi I, Pontecorvi A. Carducci C, et al. Among authors: leuzzi v. Hum Genet. 1991 Oct;87(6):725-7. doi: 10.1007/BF00201733. Hum Genet. 1991. PMID: 1937476

3

Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).

Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, Antonozzi I. Leuzzi V, et al. Neurology. 2000 Nov 14;55(9):1407-9. doi: 10.1212/wnl.55.9.1407. Neurology. 2000. PMID: 11087795

4

Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I. Carducci C, et al. Among authors: leuzzi v. Mol Genet Metab. 2000 Dec;71(4):633-8. doi: 10.1006/mgme.2000.3108. Mol Genet Metab. 2000. PMID: 11136556

5

Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.

Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I. Carducci C, et al. Among authors: leuzzi v. Clin Chem. 2002 Oct;48(10):1772-8. Clin Chem. 2002. PMID: 12324495

6

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I. Leuzzi V, et al. Mol Genet Metab. 2006 Jan;87(1):88-90. doi: 10.1016/j.ymgme.2005.09.017. Epub 2005 Nov 15. Mol Genet Metab. 2006. PMID: 16293431

7

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

Leuzzi V, Carducci C, Carducci C, Chiarotti F, Artiola C, Giovanniello T, Antonozzi I. Leuzzi V, et al. J Inherit Metab Dis. 2006 Feb;29(1):38-46. doi: 10.1007/s10545-006-0096-3. J Inherit Metab Dis. 2006. PMID: 16601866

8

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

Leuzzi V, Di Sabato ML, Deodato F, Rizzo C, Boenzi S, Carducci C, Malaspina P, Liberanome C, Dionisi-Vici C. Leuzzi V, et al. Neurology. 2007 Apr 17;68(16):1320-1. doi: 10.1212/01.wnl.0000259537.54082.6d. Neurology. 2007. PMID: 17438226 Free article. No abstract available.

9

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato ML, Artiola C, Santagata S, Pozzessere S, Antonozzi I. Giovanniello T, et al. Among authors: leuzzi v. Neuropediatrics. 2007 Aug;38(4):213-5. doi: 10.1055/s-2007-991151. Neuropediatrics. 2007. PMID: 18058633

10

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Leuzzi V, et al. Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3. Clin Genet. 2010. PMID: 20059486

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