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I Antonozzi

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Articles 59
Citations 362
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Recent Articles
1.
Cassio A, Corbetta C, Antonozzi I, Calaciura F, Caruso U, Cesaretti G, et al.
J Endocrinol Invest . 2013 Feb; 36(3):195-203. PMID: 23404215
The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian...
2.
Pacifico L, Carducci C, Poggiogalle E, Caravona F, Antonozzi I, Chiesa C, et al.
Clin Genet . 2010 Nov; 78(6):598-600. PMID: 21044052
No abstract available.
3.
Leuzzi V, Carducci C, Carducci C, Pozzessere S, Burlina A, Cerone R, et al.
Clin Genet . 2010 Jan; 77(3):249-57. PMID: 20059486
This study aimed to investigate the clinical variability and factors implied in the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6-pyruvoyl-tetrahydropterin synthase (PTS) genotype,...
4.
Giovanniello T, Leuzzi V, Carducci C, Di Sabato M, Artiola C, Santagata S, et al.
Neuropediatrics . 2007 Dec; 38(4):213-5. PMID: 18058633
Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-DOPA responsive dystonia, has been associated with a broad spectrum of movement disorders and clinical courses. We describe a...
5.
Bianchi M, Tosetti M, Battini R, Leuzzi V, Alessandri M, Carducci C, et al.
AJNR Am J Neuroradiol . 2007 Mar; 28(3):548-54. PMID: 17353334
Background And Purpose: Brain creatine (Cr) deficiencies (BCr-d) are rare disorders of creatine biosynthesis and transport. We performed consecutive measures of total Cr (tCr) and of its phosphorylated fraction, phosphocreatine...
6.
Leuzzi V, Tosetti M, Montanaro D, Artiola C, Carducci C, Antonozzi I, et al.
J Inherit Metab Dis . 2007 Jan; 30(2):209-16. PMID: 17245558
Objective: To gain insights into the nature and pathogenesis of white matter (WM) abnormalities in PKU. Methods: Thirty-two patients with phenylalanine hydroxylase deficiency (21 with early and 11 with late...
7.
Leuzzi V, Carducci C, Chiarotti F, Artiola C, Giovanniello T, Antonozzi I
J Inherit Metab Dis . 2006 Apr; 29(1):38-46. PMID: 16601866
A fall in blood phenylalanine (Phe) after tetrahydrobiopterin (BH(4)) administration is a common trait in phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (McKusick 261600). To explore the extent and biological correlates...
8.
Leuzzi V, Pansini M, Sechi E, Chiarotti F, Carducci C, Levi G, et al.
J Inherit Metab Dis . 2004 May; 27(2):115-25. PMID: 15159642
Executive functions were studied in 14 early and continuously treated PKU subjects (age 10.8 years, range 8-13) in comparison with controls matched for IQ, sex, age and socioeconomic status. Brain...
9.
Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I
Neurology . 2002 Oct; 59(8):1241-3. PMID: 12391354
The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus-dystonia syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, dystonia and bradykinesia. Blood prolactin...
10.
Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I
J Chromatogr B Biomed Sci Appl . 2001 Jun; 755(1-2):343-8. PMID: 11393723
A new automated method for the assay of guanidinoacetic acid (GAA) in dried blood spot (DBS) on filter paper is reported. The method, based on reversed-phase (RP)-HPLC, precolumn derivatisation with...