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Roberto T Zori, MD

Pediatric Medical Geneticist, Pediatrician (Kids / Children Specialist)

Photo of Roberto T Zori

Research at a glance

Top areas of exploration

  • Chromosome Deletion , 14 publications
  • Intellectual Disability , 13 publications
  • Syndrome , 13 publications
  • Phenotype , 11 publications

Research activity

101 publications

3,486 citations

Why is this important?

Active clinical trials

PTC923-004 extension study

The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.

Investigator
Roberto T Zori
Status
Accepting Candidates
Ages
N/A - N/A
Sexes
All

My publications

101 publications

2024

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

Lancet (London, England)

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2024

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.

Molecular genetics and metabolism

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2024

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.

Molecular genetics and metabolism reports

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2023

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.

Molecular genetics and metabolism

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2023

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

Nature metabolism

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