Estrella Lizbeth Mellin Sanchez, M.D.

Estrella Lizbeth Mellin Sanchez M.D.

Assistant Professor

Department: Department of Pediatrics
Business Phone: (904) 427-7117
Business Email: Lizbeth.Mellin@jax.ufl.edu
Appointments and Locations

Clinical Profile

Specialties
  • Genetics
Languages
  • Speaks English and Spanish

Publications

2023
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Research square.():-[DOI] 10.21203/rs.3.rs-3699740/v1.[PMID] 38168160.
PubMed·Publisher's Site
2022
Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
Clinical Case Reports.10(5):e05835-[DOI] 10.1002/ccr3.5835.[PMID] 35600042.
1 citations·PubMed·Publisher's Site
2021
Outcomes of patients with cobalamin C deficiency: A single center experience
JIMD Reports.57(1):102-114[DOI] 10.1002/jmd2.12179.[PMID] 33473346.
6 citations·PubMed·Publisher's Site
2018
An Infant Refugee with Anemia and Low Serum Vitamin B12
Clinical Chemistry.64(11):1567-1570[DOI] 10.1373/clinchem.2017.283283.[PMID] 30377178.
3 citations·PubMed·Publisher's Site
2016
Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience
American Journal of Medical Genetics Part A.170(2):316-321[DOI] 10.1002/ajmg.a.37433.[PMID] .
PubMed·Publisher's Site
2015
Broadening the spectrum of Catania brachydactylous type of acrofacial dysostoses
Clinical Dysmorphology.24(4):163-165[DOI] 10.1097/mcd.0000000000000089.[PMID] .
PubMed·Publisher's Site
2015
Prevalence and risk factors for gastroschisis in a public hospital from west México
Congenital Anomalies.55(2):73-80[DOI] 10.1111/cga.12087.[PMID] .
PubMed·Publisher's Site
2013
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome
Clinical Dysmorphology.22(2):81-83[DOI] 10.1097/mcd.0b013e3283602830.[PMID] .
PubMed·Publisher's Site

Office Information

Academic Office
Suite 1900
841 Prudential Drive
Jacksonville, FL 32207
(904) 427-7117
 Lizbeth.Mellin@jax.ufl.edu
Executive Assistant
 Erin Berk
(904) 427-7117
erin.berk2@jax.ufl.edu
Administrator
 Maureen Palazzolo
(904) 244-2126
maureen.palazzolo@jax.ufl.edu

Clinical Research

OPEN ENROLLMENT
Biobank for Potential or Known Genetic Diseases
OPEN ENROLLMENT
Rare Disease Registry
A Multicenter, Interventional, Retrospective and Prospective study of Enzyme Replacement Therapy (VPRIV) Clinical Outcomes and Safety in Gaucher Disease Type 1 Patients Previously Treated with Substrate Reduction Therapy
OPEN ENROLLMENT
Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, Immunogenicity of Cipaglucosidase Alfa/miglustat in Pediatrics < 18 Yrs with Lopd Pompe Disease
OPEN ENROLLMENT
Phase 3, Double blind, Randomized, Placebo controlled, Multicenter Study for the Safety, Tolerability, Efficacy of Trappsol® Cyclo™ vs. Placebo in Niemann Pick Disease

Education

Medical Degree
2009 · Michoacan University of Saint Nicholas of Hidalgo, Michoacan, Mexico
Genetics Fellowship
2015 · Canadian College of Medical Genetics, Toronto, Canada