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Claudia Carducci

Sapienza University of Rome

78

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1520

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Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.

2021 Journal of Chromatography B
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Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.

2020 Nutrients
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Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria.

2020 Molecular genetics and metabolism reports
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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

2020 Molecular Genetics and Metabolism
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Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

2020 Parkinsonism & Related Disorders
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Clinical characterization of tremor in patients with phenylketonuria

2019 Molecular Genetics and Metabolism
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Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

2019 Orphanet Journal of Rare Diseases
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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test

2018
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Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome

2018 Movement Disorders Clinical Practice
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A new therapy prevents intellectual disability in mouse with phenylketonuria

2018 Molecular Genetics and Metabolism
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