Carla Carducci

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

Progetti di Ricerca

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