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(352) 294-5050

Roberto T Zori, MD

Pediatric Medical Geneticist, Pediatrician (Kids / Children Specialist)

Photo of Roberto T Zori
(352) 294-5050 MyUFHealth

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

2021

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

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2021

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.

Journal of inherited metabolic disease

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2021

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2聽months of age with urea cycle disorders.

Molecular genetics and metabolism

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2021

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.

Clinical and translational science

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2020

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Human molecular genetics

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