Giovanniello T - Search Results

1

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Tolve M, Artiola C, Pasquali A, Giovanniello T, D'Amici S, Angeloni A, Pizzuti A, Carducci C, Leuzzi V, Carducci C. Tolve M, et al. Among authors: giovanniello t. Methods Protoc. 2018 Aug 16;1(3):30. doi: 10.3390/mps1030030. Methods Protoc. 2018. PMID: 31164572 Free PMC article.

2

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. Among authors: giovanniello t. J Inherit Metab Dis. 2006 Feb;29(1):38-46. doi: 10.1007/s10545-006-0096-3. J Inherit Metab Dis. 2006. PMID: 16601866

3

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.

Carducci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, Battini R, Antonozzi I. Carducci C, et al. Among authors: giovanniello t. Clin Chim Acta. 2006 Feb;364(1-2):180-7. doi: 10.1016/j.cca.2005.06.016. Epub 2005 Sep 28. Clin Chim Acta. 2006. PMID: 16197934

4

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. Neuropediatrics. 2007 Aug;38(4):213-5. doi: 10.1055/s-2007-991151. Neuropediatrics. 2007. PMID: 18058633

5

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

Giovanniello T, Claps D, Carducci C, Carducci C, Blau N, Vigevano F, Antonozzi I, Leuzzi V. Giovanniello T, et al. J Child Neurol. 2012 Apr;27(4):523-5. doi: 10.1177/0883073811420717. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940685

6

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V. Nardecchia F, et al. Among authors: giovanniello t. Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422. Int J Mol Sci. 2022. PMID: 35457240 Free PMC article. Review.

7

The diagnostic challenge of mild citrulline elevation at newborn screening.

Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Among authors: giovanniello t. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366

8

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.

Scola RH, Carducci C, Amaral VG, Lorenzoni PJ, Teive HA, Giovanniello T, Werneck LC. Scola RH, et al. Among authors: giovanniello t. Arq Neuropsiquiatr. 2007 Dec;65(4B):1224-7. doi: 10.1590/s0004-282x2007000700026. Arq Neuropsiquiatr. 2007. PMID: 18345435 Free article.

9

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.

De Rosa A, Carducci C, Antonozzi I, Giovanniello T, Xhoxhi E, Criscuolo C, Menchise V, Striano S, Filla A, De Michele G. De Rosa A, et al. Among authors: giovanniello t. J Neurol. 2007 Aug;254(8):1133-4. doi: 10.1007/s00415-006-0475-6. Epub 2007 Apr 6. J Neurol. 2007. PMID: 17410324 No abstract available.

10

CGRP and ET-1 plasma levels in normal subjects.

Parlapiano C, Paoletti V, Campana E, Giovanniello T, Pantone P, Labbadia G, Califano F, Donnarumma L, Musca A. Parlapiano C, et al. Among authors: giovanniello t. Eur Rev Med Pharmacol Sci. 1999 May-Jun;3(3):139-41. Eur Rev Med Pharmacol Sci. 1999. PMID: 10827818 Clinical Trial.

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