person
Albina T.
- Country
- Italy
- Department
- Department of Pediatrics, Unit of Metabolic and Genetic Diseases
Research Overview
assignment
1
Clinical Trials ·
location_city
1
Research Sites
Data & Insights
medical_services
Primary Speciality
Main therapeutic area
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Return Partnerships
Recurring site collaborations
0
Sites with multiple studies
Has run more than one trial at 0 of 19 partner sites.
Specializations
Pediatric Metabolic Disorders
Focus on the diagnosis and management of inborn errors of metabolism affecting infants and children.
- Newborn screening programs
- Enzyme replacement strategies
- Dietary therapy optimization
Collaboration with metabolic clinics to improve patient outcomes.
Genetic Pediatric Diseases
Investigation of hereditary metabolic syndromes and their clinical manifestations in the pediatric population.
- Gene sequencing for variant identification
- Phenotype‑genotype correlation studies
- Family counseling protocols
Integration of genetic counseling into routine pediatric care.
Rare Metabolic Conditions
Dedicated research on ultra‑rare metabolic disorders with limited therapeutic options.
- Novel substrate reduction therapies
- Patient registry development
- Long‑term natural history tracking
Engagement with international rare disease networks.
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