author-photo

Am Fortuna

Instituto Nacional de Saúde Dr. Ricardo Jorge

5

Papers

46

Citations

Citation Trend

Filter By

Papers (4) Sort By

Journal Conference Others

Expanding phenotype variability in RFT1-CDG: absence of deafness in two patients with novel mutations

2016 Journal of Inherited Metabolic Disease
Show All
- Source
- Cite
- Save
Citations (0)
Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

2014 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (3)
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

2012 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (30)
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

2011 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (9)