Francesco Porta

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

Salivary and lacrimal gland dysfunction (sicca syndrome) after radioiodine therapy.

Roser Solans, J. Bosch, Pere Galofré et al. · PubMed · 2001 · 231 citations

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

Autoimmune Disease, Disease Mechanism, Abnormal Glycosylation +9

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Leandra Jäggi, Marcel R. Zurflüh, Ágnes Schuler et al. · Molecular Genetics and Metabolism · 2007 · 75 citations

Translational Medicine, Tetrahydrobiopterin Deficiency, Inherited Metabolic Disease +2