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Year | Number of Results |
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2005 | 2 |
2006 | 2 |
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2018 | 1 |
2020 | 1 |
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2024 | 0 |
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Page 1
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Genes (Basel). 2023 Jan 19;14(2):263. doi: 10.3390/genes14020263.
Genes (Basel). 2023.
PMID: 36833190
Free PMC article.
Review.
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci C, Amayreh W, Ababneh H, Mahasneh A, Al Rababah B, Al Qaqa K, Al Aqeel M, Artiola C, Tolve M, D'Amici S, Shen N, Yu Y, Hillert A, Himmelreich N, Okun JG, Hoffmann GF, Blau N.
Carducci C, et al. Among authors: artiola c.
JIMD Rep. 2020 May 19;55(1):59-67. doi: 10.1002/jmd2.12130. eCollection 2020 Sep.
JIMD Rep. 2020.
PMID: 32905092
Free PMC article.
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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: artiola c.
Methods Protoc. 2018 Aug 16;1(3):30. doi: 10.3390/mps1030030.
Methods Protoc. 2018.
PMID: 31164572
Free PMC article.
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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.
Leuzzi V, et al. Among authors: artiola c.
JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.
JIMD Rep. 2015.
PMID: 24788355
Free PMC article.
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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.
Carducci C, et al. Among authors: artiola c.
BMC Neurosci. 2012 Apr 26;13:41. doi: 10.1186/1471-2202-13-41.
BMC Neurosci. 2012.
PMID: 22536786
Free PMC article.
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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. Among authors: artiola c.
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
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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: artiola c.
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
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