Publications by authors named "Carla Carducci"

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European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Anne Munck, Daria O Berger, Kevin W Southern, Carla Carducci, Karin M de Winter-de Groot

J Cyst Fibros· May 2023

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Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci

Genes (Basel)· January 2023

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Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Nastassja Himmelreich, Riccardo Montioli, Sven F Garbade, Jeffrey Kopesky, Sarah H Elsea, Carla Carducci

Mol Genet Metab· December 2022

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Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Filippo Manti, Mario Mastrangelo, Roberta Battini, Claudia Carducci, Carlotta Spagnoli, Carla Carducci

Parkinsonism Relat Disord· October 2022

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Claudia Carducci

Int J Neonatal Screen· August 2022

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Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Carla Carducci

Hum Mutat· January 2022

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Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis.
Vito Terlizzi, Laura Claut, Carla Colombo, Antonella Tosco, Alice Castaldo, Carla Carducci

Pediatr Pulmonol· December 2021

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Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi

Mol Genet Metab· July 2021

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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, Alberto Burlina, Carla Carducci, Claudia Carducci

Mol Genet Metab· June 2021

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Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah

JIMD Rep· September 2020

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The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K Burton, Carla Carducci

Am J Hum Genet· August 2020

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-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci

Int J Mol Sci· August 2020

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Multiple sclerosis and intracellular cobalamin defect (/) comorbidity in a young male.
Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Carla Carducci

Mol Genet Metab Rep· March 2020

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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
Riccardo Montioli, Roberta Battini, Alessandro Paiardini, Manuela Tolve, Mariarita Bertoldi, Carla Carducci

Mol Genet Metab· June 2019

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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi

Mol Genet Metab· May 2019

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Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci

Mol Genet Metab· December 2018

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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Manuela Tolve, Cristiana Artiola, Amelia Pasquali, Teresa Giovanniello, Sirio D'Amici, Claudia Carducci, Carla Carducci

Methods Protoc· August 2018

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Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.
Mario Mastrangelo, Filippo Manti, Luisa Patanè, Stefania Ferrari, Carla Carducci, Claudia Carducci

Mov Disord Clin Pract· May 2018

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Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci

Data Brief· December 2017

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Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.
Filippo Manti, Francesca Nardecchia, Sabrina Paci, Flavia Chiarotti, Claudia Carducci, Carla Carducci

J Inherit Metab Dis· November 2017

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Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci

Mol Genet Metab· September 2017

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Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot.
Silvia Santagata, Emanuele Di Carlo, Carla Carducci, Vincenzo Leuzzi, Antonio Angeloni, Claudia Carducci

Clin Chim Acta· March 2017

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Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.
Francesca Nardecchia, Filippo Manti, Flavia Chiarotti, Claudia Carducci, Carla Carducci

Mol Genet Metab· March 2016

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Psychiatric disorders in adolescent and young adult patients with phenylketonuria.
Filippo Manti, Francesca Nardecchia, Flavia Chiarotti, Claudia Carducci, Carla Carducci

Mol Genet Metab· January 2016

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Claudia Carducci, Silvia Santagata, Jennifer Friedman, Elisabetta Pasquini, Carla Carducci

Mol Genet Metab· August 2015

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