Francesco Porta - Concepedia

Author

Francesco Porta

University of Turin ORCID

Also Known As

F A Porta, F PORTA, F Porta, F. PORTA, F. Porta, Francesco Porta, Porta F, Porta, F, Porta, Francesco, Simon Pope

138

Publications

2.5K

Citations

H-Index

Concepts

All Affiliations

University of Turin Ospedale Regina Margherita Azienda Ospedaliera Citta' della Salute e della Scienza di Torino University of Milan University Children's Hospital Zurich

About

Francesco Porta is an author at University of Turin specializing in medicine, pathology, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	23	1.1K
2	Health Sciences	3	3	72
3	Public Health	3	3	451
4	Natural Sciences	2	2	32
5	Engineering	1	1	25

Francesco Porta

Publications

Citations

H-Index

Page 1

	Year	Citations
The Genetic Landscape and Epidemiology of Phenylketonuria Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, The American Journal of Human Genetics Genetic LandscapeGenetic DisorderMedicineGeneticsGenetic Epidemiology	2020	339
Salivary and lacrimal gland dysfunction (sicca syndrome) after radioiodine therapy. Roser Solans, J. Bosch, Pere Galofré, PubMed	2001	231
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, The Lancet Diabetes & Endocrinology Disease CharacteristicsDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis	2020	107
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, The American Journal of Human Genetics Autoimmune DiseaseDisease MechanismAbnormal GlycosylationGenetic DisorderGenetics	2016	89
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency Leandra Jäggi, Marcel R. Zurflüh, Ágnes Schuler, Molecular Genetics and Metabolism Translational MedicineTetrahydrobiopterin DeficiencyInherited Metabolic DiseasePathologyMedicine	2007	75
Human serum albumin: twenty‐three genetic variants and their population distribution L.R. Weitkamp, Francisco M. Salzano, J.V. Neel, Annals of Human Genetics GeneticsGenetic EpidemiologyHuman PolymorphismPathologyAlbumin Variation	1973	63
Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency Vincenzo Leuzzi, Ca Carducci, Simone Pozzessere, Clinical Genetics Neurological DisorderGeneticsClinical NeurologyDiagnosisPathology	2010	59
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia Marco Spada, Francesco Porta, Liliana Vercelli, Molecular Genetics and Metabolism Later-onset PompeClinical EpidemiologyHematologyPathologyMedicine	2013	57
Bone Impairment in Phenylketonuria Is Characterized by Circulating Osteoclast Precursors and Activated T Cell Increase Ilaria Roato, Francesco Porta, Alessandro Mussa, PLoS ONE	2010	56
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, International Journal of Neonatal Screening NeonatologyFetal MedicineDiagnosisNewborn ScreeningNeonatal Genomics	2022	49

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