Carducci C - Search Results

1

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.

Chessa L, Piane M, Prudente S, Carducci C, Mazzilli MC, Pachti A, Negrini M, Narducci MG, Russo G, Frati L. Chessa L, et al. Among authors: carducci c. Prenat Diagn. 1999 Jun;19(6):542-5. doi: 10.1002/(sici)1097-0223(199906)19:6<542::aid-pd586>3.0.co;2-l. Prenat Diagn. 1999. PMID: 10416970

2

Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

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

3

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

4

Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report.

Lubrano R, Bellelli E, Gentile I, Paoli S, Carducci C, Carducci C, Santagata S, Pérez B, Ugarte M, Labriola D, Elli M. Lubrano R, et al. Among authors: carducci c. Am J Transplant. 2013 Jul;13(7):1918-22. doi: 10.1111/ajt.12282. Epub 2013 May 24. Am J Transplant. 2013. PMID: 23711287 Free article.

5

Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency.

Carducci C, Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I. Carducci C, et al. J Chromatogr B Biomed Sci Appl. 2001 May 5;755(1-2):343-8. doi: 10.1016/s0378-4347(01)00052-4. J Chromatogr B Biomed Sci Appl. 2001. PMID: 11393723

6

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Leuzzi V, et al. Among authors: carducci c. Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241. Neurology. 2002. PMID: 12391354

7

Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.

Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I. Leuzzi V, et al. Among authors: carducci cl, carducci ca. J Inherit Metab Dis. 2000 Sep;23(6):563-70. doi: 10.1023/a:1005621727560. J Inherit Metab Dis. 2000. PMID: 11032331

8

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. Among authors: carducci cl, carducci ca. 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

9

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

10

Derangement of the dopaminergic system in phenylketonuria: study of the event-related potential (P300).

Leuzzi V, Seri S, Cerquiglini A, Carducci C, Carducci C, Antonozzi I. Leuzzi V, et al. Among authors: carducci c. J Inherit Metab Dis. 2000 Jun;23(4):317-20. doi: 10.1023/a:1005646206348. J Inherit Metab Dis. 2000. PMID: 10896283 No abstract available.

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