Sfoglia per Autore
Increased Soluble Interleukin 6 Receptors in Fabry Disease
2024 Lenzini, Livia; Iori, Elisabetta; Vettore, Monica; Gugelmo, Giorgia; Radu, Claudia; Padoan, Andrea; Carraro, Gianni; Simioni, Paolo; Calò, Lorenzo; Avogaro, Angelo; Rossi, Gian Paolo; Vitturi, Nicola
Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a
2023 Lenzini, L.; Iori, E.; Scannapieco, F.; Carraro, G.; Avogaro, A.; Vitturi, N.
Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients
2023 Gugelmo, G.; Vitturi, N.; Francini-Pesenti, F.; Fasan, I.; Lenzini, L.; Valentini, R.; Carraro, G.; Avogaro, A.; Spinella, P.
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
2023 Maines, E.; Moretti, M.; Vitturi, N.; Gugelmo, G.; Fasan, I.; Lenzini, L.; Piccoli, G.; Gragnaniello, V.; Maiorana, A.; Soffiati, M.; Burlina, A.; Franceschi, R.
Primary Aldosteronism and Drug Resistant Hypertension: A "Chicken-Egg" Story
2023 Lenzini, L; Pintus, G; Rossitto, G; Seccia, T M; Rossi, G P
Machine learning for classification of hypertension subtypes using multi-omics: A multi-centre, retrospective, data-driven study
2022 Reel, Parminder S; Reel, Smarti; van Kralingen, Josie C; Langton, Katharina; Lang, Katharina; Erlic, Zoran; Larsen, Casper K; Amar, Laurence; Pamporaki, Christina; Mulatero, Paolo; Blanchard, Anne; Kabat, Marek; Robertson, Stacy; Mackenzie, Scott M; Taylor, Angela E; Peitzsch, Mirko; Ceccato, Filippo; Scaroni, Carla; Reincke, Martin; Kroiss, Matthias; Dennedy, Michael C; Pecori, Alessio; Monticone, Silvia; Deinum, Jaap; Rossi, Gian Paolo; Lenzini, Livia; Mcclure, John D; Nind, Thomas; Riddell, Alexandra; Stell, Anthony; Cole, Christian; Sudano, Isabella; Prehn, Cornelia; Adamski, Jerzy; Gimenez-Roqueplo, Anne-Paule; Assié, Guillaume; Arlt, Wiebke; Beuschlein, Felix; Eisenhofer, Graeme; Davies, Eleanor; Zennaro, Maria-Christina; Jefferson, Emily
Identification of risk loci for primary aldosteronism in genome-wide association studies
2022 Le Floch, Edith; Cosentino, Teresa; Larsen, Casper K; Beuschlein, Felix; Reincke, Martin; Amar, Laurence; Rossi, Gian-Paolo; De Sousa, Kelly; Baron, Stéphanie; Chantalat, Sophie; Saintpierre, Benjamin; Lenzini, Livia; Frouin, Arthur; Giscos-Douriez, Isabelle; Ferey, Matthis; Abdellatif, Alaa B; Meatchi, Tchao; Empana, Jean-Philippe; Jouven, Xavier; Gieger, Christian; Waldenberger, Melanie; Peters, Annette; Cusi, Daniele; Salvi, Erika; Meneton, Pierre; Touvier, Mathilde; Deschasaux, Mélanie; Druesne-Pecollo, Nathalie; Boulkroun, Sheerazed; Fernandes-Rosa, Fabio L; Deleuze, Jean-François; Jeunemaitre, Xavier; Zennaro, Maria-Christina
Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience
2022 Lenzini, Livia; Carraro, Gianni; Avogaro, Angelo; Vitturi, Nicola
Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets
2022 Gugelmo, G.; Lenzini, L.; Francini-Pesenti, F.; Fasan, I.; Spinella, P.; Valentini, R.; Miraval, A.; Avogaro, A.; Vitturi, N.
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
2022 Bliziotis, Nikolaos G; Kluijtmans, Leo A J; Tinnevelt, Gerjen H; Reel, Parminder; Reel, Smarti; Langton, Katharina; Robledo, Mercedes; Pamporaki, Christina; Pecori, Alessio; Van Kralingen, Josie; Tetti, Martina; Engelke, Udo F H; Erlic, Zoran; Engel, Jasper; Deutschbein, Timo; Nölting, Svenja; Prejbisz, Aleksander; Richter, Susan; Adamski, Jerzy; Januszewicz, Andrzej; Ceccato, Filippo; Scaroni, Carla; Dennedy, Michael C; Williams, Tracy A; Lenzini, Livia; Gimenez-Roqueplo, Anne-Paule; Davies, Eleanor; Fassnacht, Martin; Remde, Hanna; Eisenhofer, Graeme; Beuschlein, Felix; Kroiss, Matthias; Jefferson, Emily; Zennaro, Maria-Christina; Wevers, Ron A; Jansen, Jeroen J; Deinum, Jaap; Timmers, Henri J L M
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
2022 Lenzini, L.; Carecchio, M.; Iori, E.; Legati, A.; Lamantea, E.; Avogaro, A.; Vitturi, N.
Preanalytical considerations and out-patient vs in-patient tests of plasma metanephrines to diagnose pheochromocytoma
2022 Pommer, Georg; Pamporaki, Christina; Peitzsch, Mirko; Remde, Hanna; Deutschbein, Timo; Nölting, Svenja; Müller, Lisa Marie; Braun, Leah; Gruber, Sven; Pecori, Alessio; Hampson, Stephanie; Davies, Eleanor; Stell, Anthony; Rossi, Gian Paolo; Lenzini, Livia; Ceccato, Fillipo; Timmers, Henri J L M; Deinum, Jaap; Amar, Laurence; Blanchard, Anne; Baron, Stephanie; Fassnacht, Martin; Dobrowolski, Piotr; Januszewicz, Andrzej; Zennaro, Maria-Christina; Prejbisz, Aleksander; Eisenhofer, Graeme
Drug-resistant hypertension in primary aldosteronism patients undergoing adrenal vein sampling: the AVIS-2-RH study
2022 Rossi, G. P.; Rossitto, G.; Amar, L.; Azizi, M.; Riester, A.; Reincke, M.; Degenhart, C.; Widimsky, J.; Naruse, M.; Deinum, J.; Schultze Kool, L.; Kocjan, T.; Negro, A.; Rossi, E.; Kline, G.; Tanabe, A.; Satoh, F.; Rump, L. C.; Vonend, O.; Willenberg, H. S.; Fuller, P. J.; Yang, J.; Chee, N. Y. N.; Margill, S. B.; Shafigullina, Z.; Quinkler, M.; Oliveras, A.; Lee, B. -C.; Wu, V. C.; Kratka, Z.; Seccia, T. M.; Lenzini, L.
Predicting Hypertension Subtypes with Machine Learning Using Targeted Metabolites and Their Ratios
2022 Reel, Smarti; Reel, Parminder S; Erlic, Zoran; Amar, Laurence; Pecori, Alessio; Larsen, Casper K; Tetti, Martina; Pamporaki, Christina; Prehn, Cornelia; Adamski, Jerzy; Prejbisz, Aleksander; Ceccato, Filippo; Scaroni, Carla; Kroiss, Matthias; Dennedy, Michael C; Deinum, Jaap; Eisenhofer, Graeme; Langton, Katharina; Mulatero, Paolo; Reincke, Martin; Rossi, Gian Paolo; Lenzini, Livia; Davies, Eleanor; Gimenez-Roqueplo, Anne-Paule; Assié, Guillaume; Blanchard, Anne; Zennaro, Maria-Christina; Beuschlein, Felix; Jefferson, Emily R
Whole blood methylome-derived features to discriminate endocrine hypertension
2022 Armignacco, Roberta; Reel, Parminder S; Reel, Smarti; Jouinot, Anne; Septier, Amandine; Gaspar, Cassandra; Perlemoine, Karine; Larsen, Casper K; Bouys, Lucas; Braun, Leah; Riester, Anna; Kroiss, Matthias; Bonnet-Serrano, Fidéline; Amar, Laurence; Blanchard, Anne; Gimenez-Roqueplo, Anne-Paule; Prejbisz, Aleksander; Januszewicz, Andrzej; Dobrowolski, Piotr; Davies, Eleanor; Mackenzie, Scott M; Rossi, Gian Paolo; Lenzini, Livia; Ceccato, Filippo; Scaroni, Carla; Mulatero, Paolo; Williams, Tracy A; Pecori, Alessio; Monticone, Silvia; Beuschlein, Felix; Reincke, Martin; Zennaro, Maria-Christina; Bertherat, Jérôme; Jefferson, Emily; Assié, Guillaume
Preanalytical considerations and out-patient vs in-patient tests of plasma metanephrines to diagnose pheochromocytoma
2022 Pommer, Georg; Pamporaki, Christina; Peitzsch, Mirko; Remde, Hanna; Deutschbein, Timo; Nölting, Svenja; Müller, Lisa Marie; Braun, Leah; Gruber, Sven; Pecori, Alessio; Hampson, Stephanie; Davies, Eleanor; Stell, Anthony; Rossi, Gian Paolo; Lenzini, Livia; Ceccato, Filippo; Timmers, Henri J L M; Deinum, Jaap; Amar, Laurence; Blanchard, Anne; Baron, Stephanie; Fassnacht, Martin; Dobrowolski, Piotr; Januszewicz, Andrzej; Zennaro, Maria-Christina; Prejbisz, Aleksander; Eisenhofer, Graeme
Peptidergic G Protein–Coupled Receptor Regulation of Adrenal Function: Bench to Bedside and Back
2022 Lenzini, Livia; Caroccia, Brasilina; Seccia, Teresa Maria; Rossi, Gian Paolo
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
2021 Vitturi, Nicola; Lenzini, Livia; Luisi, Concetta; Carecchio, Miryam; Gugelmo, Giorgia; Francini-Pesenti, Francesco; Avogaro, Angelo
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening
2021 Vitturi, N.; Lenzini, L.; Francini-Pesenti, F.; Gugelmo, G.; Avogaro, A.
Aldosterone and cortisol synthesis regulation by angiotensin-(1-7) and angiotensin-converting enzyme 2 in the human adrenal cortex
2021 Caroccia, Brasilina; Vanderriele, Paul-Emmanuel; Seccia, Teresa Maria; Piazza, Maria; Lenzini, Livia; Prisco, Selene; Torresan, Francesca; Domenig, Oliver; Iacobone, Maurizio; Poglitsch, Marko; Rossi, Gian Paolo
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