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Carla.Carducci@uniroma1.it
Carla Carducci
Professore Associato
Struttura:
DIPARTIMENTO DI MEDICINA SPERIMENTALE
E-mail:
Carla.Carducci@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
Pubblicazioni
Titolo
Pubblicato in
Anno
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
GENES
2023
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
PARKINSONISM & RELATED DISORDERS
2022
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
MOLECULAR GENETICS AND METABOLISM
2022
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance
JOURNAL OF CYSTIC FIBROSIS
2022
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance
HUMAN MUTATION
2021
Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis
PEDIATRIC PULMONOLOGY
2021
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
MOLECULAR GENETICS AND METABOLISM REPORTS
2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients
MOLECULAR GENETICS AND METABOLISM
2020
The Genetic Landscape and Epidemiology of Phenylketonuria
AMERICAN JOURNAL OF HUMAN GENETICS
2020
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
JIMD REPORTS
2020
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder
PARKINSONISM & RELATED DISORDERS
2019
Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook
MOLECULAR GENETICS AND METABOLISM
2019
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
MOLECULAR GENETICS AND METABOLISM
2019
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]
MOLECULAR GENETICS AND METABOLISM
2018
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test
METHODS AND PROTOCOLS
2018
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome
MOVEMENT DISORDERS CLINICAL PRACTICE
2018
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot
CLINICA CHIMICA ACTA
2017
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation
MOLECULAR GENETICS AND METABOLISM
2017
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Progetti di Ricerca
Screening mirato per la identificazione precoce di neonati affetti da patologie neuromuscolari e neurometaboliche
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