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Results: 8

1.

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C.

JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.

2.

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.

Carducci C, Carducci C, Santagata S, Adriano E, Artiola C, Thellung S, Gatta E, Robello M, Florio T, Antonozzi I, Leuzzi V, Balestrino M.

BMC Neurosci. 2012 Apr 26;13:41. doi: 10.1186/1471-2202-13-41.

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.

Neuropediatrics. 2007 Aug;38(4):213-5.

PMID:
18058633
4.

The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.

Leuzzi V, Tosetti M, Montanaro D, Carducci C, Artiola C, Carducci C, Antonozzi I, Burroni M, Carnevale F, Chiarotti F, Popolizio T, Giannatempo GM, D'Alesio V, Scarabino T.

J Inherit Metab Dis. 2007 Apr;30(2):209-16. Epub 2007 Jan 23.

PMID:
17245558
5.

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.

J Inherit Metab Dis. 2006 Feb;29(1):38-46.

PMID:
16601866
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.

Mol Genet Metab. 2006 Jan;87(1):88-90. Epub 2005 Nov 15.

PMID:
16293431
7.

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.

Clin Chim Acta. 2006 Feb;364(1-2):180-7. Epub 2005 Sep 28.

PMID:
16197934
8.

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.

Neurology. 2002 Oct 22;59(8):1241-3.

PMID:
12391354
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