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(904) 244-0411 MyUFHealth Education Research Community

Treats Children

Pamela L Trapane, MD

Clinical Geneticist

4.9 /5 71 ratings

(904) 633-0920

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Established patients New patients

Research at a glance

Top areas of exploration

Mutation , 5 publications
Abnormalities, Multiple , 5 publications
Genetic Predisposition to Disease , 4 publications
Heterozygote , 4 publications

Research activity

24 publications

999 citations

Why is this important?

Active clinical trials

Rare Disease Registry

Investigators: Lizbeth Mellin-Sanchez, Pamela L Trapane
Status: Accepting Candidates
Ages: 0 Years - 100 Years
Sexes: All

Biobank for Potential or Known Genetic Diseases

Investigators: Lizbeth Mellin-Sanchez, Pamela L Trapane
Status: Accepting Candidates
Ages: 0 Years - 100 Years
Sexes: All

Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, Immunogenicity of Cipaglucosidase Alfa/miglustat in Pediatrics < 18 Yrs with Lopd Pompe Disease

Investigators: Lizbeth Mellin-Sanchez, Pamela L Trapane
Status: Accepting Candidates
Ages: 0 Years - 17 Years
Sexes: All

My publications

24 publications

2008

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

American journal of medical genetics. Part A

PubMed • Publisher's site

2007

A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.

Cancer genetics and cytogenetics

2003

Deletion 12q: a second patient with 12q24.31q24.32 deletion.

American journal of medical genetics. Part A

2002

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.

American journal of medical genetics