Carla Carducci

Pubblicazioni

Titolo Pubblicato in Anno
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes MOVEMENT DISORDERS CLINICAL PRACTICE 2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome MOVEMENT DISORDERS 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism GENES 2023
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants FRONTIERS IN NEUROLOGY 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

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