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Cristiana Artiola

Observed names: ARTIOLA C, ARTIOLA, CRISTIANA, Artiola C, Artiola C., Artiola Cristiana, C. ARTIOLA, C. Artiola
ORCID: 0009-0002-7717-6752
Observed ORCID: 0009-0002-7717-6752
OpenAlex ID: A5074749342
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
2007 · V. Leuzzi, M. Tosetti, et al. · Journal of Inherited Metabolic Disease · 97
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
2002 · V. Leuzzi, Ca. Carducci, et al. · Neurology · 68
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry
2005 · Claudia Carducci, Silvia Santagata, et al. · Clinica Chimica Acta · 65
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?
2014 · Vincenzo Leuzzi, Mario Mastrangelo, et al. · JIMD Reports · 54
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
2006 · V. Leuzzi, C. Carducci, et al. · Journal of Inherited Metabolic Disease · 52
Tyrosine Hydroxylase Deficiency Presenting with a Biphasic Clinical Course
2007 · T. Giovanniello, V. Leuzzi, et al. · Neuropediatrics · 32
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
2012 · Claudia Carducci, Carla Carducci, et al. · BMC Neuroscience · 19
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
2020 · Carla Carducci, Wajdi Amayreh, et al. · JIMD Reports · 16
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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
2005 · Vincenzo Leuzzi, Carla Carducci, et al. · Molecular Genetics and Metabolism · 15
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
2023 · Mario Mastrangelo, Manuela Tolve, et al. · Genes · 10
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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test
2018 · Manuela Tolve, Cristiana Artiola, et al. · Methods and Protocols · 6
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Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
2010 · CARDUCCI, Carla, POZZESSERE, SIMONE, et al. · Journal of Inherited Metabolic Disease · 3
DNAJC12 Disease
2025 · Filippo Manti, Giacomina Ricciardi, et al. · Neurology Genetics · 2
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P014 CFTRdup15-22: a new CFTR macro-duplication associated with cystic fibrosis in a newborn screening case
2025 · A. Malgieri, G. Blaconà, et al. · Journal of Cystic Fibrosis
P014 CFTRdup15-22: a new CFTR macro-duplication associated with cystic fibrosis in a newborn screening case
2025 · Malgieri Arianna, Blaconà Giovanna, et al. · IRIS Research product catalog (Sapienza University of Rome)
Exon Deletions in Pah Gene in Italian Hyperphenylalaninemic Patients
2010 · Carla Carducci, Francesco Calı̀, et al.
Analisi di delezioni esoniche del gene PAH in pazienti affetti da iperfenilalaninemia
2009 · C. Carducci, F. Cali, et al. · Nova Science Publishers (Nova Science Publishers, Inc.)
Works count: 46
Citation count: 440
H-index: 10
I10-index: 10
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