부산대학교 도서관

Bianca Peters; Lea Dewi Schlieben; Heiko Brennenstuhl; Cigdem Arikan; Sarah M. Bedoyan; Fatma Derya Bulut; Ellen Crushell; Carlo Dionisi‐Vici; Ada Drab; Alexander Fichtner; Aixa Gonzalez Garcia; Deanna Fry; Sven F. Garbade; Nicole Hammann; Nedim Hadzic; Robert Hegarty; Marianne Hørby Jørgensen; Martin Laaß; Elke Lainka; Lina Leghlam; Eberhard Lurz; Halise Neslihan Önenli Mungan; Andrea Pietrobattista; Begona Polo; Piotr Socha; James E. Squires; Tian Sun; Georg F. Vogel; Holger Prokisch; Stefan Kölker; Georg F. Hoffmann; Christian Staufner; Dominic Lenz

Liver Int
LIVER INTERNATIONAL
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)

Francesco Tagliaferri; Roberta Iannuzzi; Gabriele Canciani; Silvia M. Bernabei; Carmen Campana; Stefania Caviglia; Benedetta Greco; Francesca R. Lepri; Antonio Novelli; Milena Pizzoferro; Maria C. Garganese; Marco Spada; Paola Francalanci; Carlo Dionisi-Vici; Arianna Maiorana

Hormone Research in Paediatrics. 98:478-490

Morris, Andrew A. M.; Sokolová, Jitka; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Dionisi‐Vici, Carlo; Baumgartner, Matthias R.; Hannibal, Luciana; Blom, Henk J.; Huemer, Martina; Kožich, Viktor; Arantes, Rodrigo R.; Blanco, Francisco Arrieta; Baghdasaryan, Anna; Ballhausen, Diana; Blasco‐Alonso, Javier; Brouwers, Martijn; Bueno, María; Burgos, Rosa; Villarroya, Elvira Cañedo; Cano, Aline; Couce, María‐Luz; Crushell, Ellen; Heras, Javier De Las; Ficicioglu, Can; Jiménez, María Concepción García; Gaspar, Ana; Leguina, Domingo González‐Lamuño; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Janssen, Mirian C. H.; Ješina, Pavel; Kaufman, Christina; Lachmann, Robin; Lavigne, Christian; Lund, Allan M.; Lüsebrink, Natalia; Maillot, Francois; Martins, Ana Maria; Olivas, Silvia Meavilla; Mention, Karine; Miñana, Isidro Vitoria; Mochel, Fanny; Monavari, Ahmad; Moreira, Sónia; Moreno, Carolina Araujo; Mundy, Helen; Murphy, Elaine; Olivieri, Giorgia; Paquay, Stéphanie; Peña‐Quintana, Luís; Ramadža, Danijela Petković; Porras‐Hurtado, Gloria Liliana; Quijada‐Fraile, Pilar; Redonnet‐Vernhet, Isabelle; Rennings, Alexander; Pons, Mònica Ruiz; Santra, Saikat; Servais, Aude; Schiaffino, Maria Cristina; Schiff, Manuel; Schwahn, Bernd C.; Schwartz, Ida V. D.; Sremba, Leighann J.; Stainforth, Collette; Stepien, Karolina Maria; Sykut‐Cegielska, Jolanta; Terry, Allyson; Piñera, Inmaculada Vives; Williams, Monique; Zeman, Jiří; Zielonka, Matthias

J Inherit Metab Dis
Journal of Inherited Metabolic Disease [eISSN 0141-8955], v. 48(1) (enero 2025)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
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Grünert, Sarah C. ; Baumgartner, Matthias R. ; Bouchereau, Juliette ; Burlina, Alberto ; Clayton, Peter T. ; Heras, Javier de las ; Dionisi-Vici, Carlo ; Gemperle-Britschgi, Corinne ; Haase, Claudia ; Korman, Stanley H. ; Krämer, Johannes ; Kühlwein, Eva ; Maier, Esther M. ; Maiorana, Arianna ; Schiff, Manuel ; Schmid, Carl Ulrich ; Tangeraas, Trine ; Yamamoto, Raina ; Zschocke, Johannes ; Sass, Jörn Oliver

In Genetics in Medicine June 2025

Samira Safarikia; Riccardo Cirelli; Gionata Spagnoletti; Diego Martinelli; Giulia Bravetti; Paola Francalanci; Annamaria D'Alessandro; Giovina Di Felice; Marta Maistri; Elena Baldissone; Alberto M. Fratti; Raffaele Simeoli; Elisa Sacchetti; Sara Cairoli; Cristiano Rizzo; Rosanna Pariante; Michele Vacca; Andrea Cappoli; Christian Albano; Andrea Pietrobattista; Marco Spada; Carlo Dionisi Vici

J Inherit Metab Dis

Nicola Longo; Vanja Sikirica; Stephanie Grunewald; Olga Moshkovich; Carlo Dionisi-Vici; Javier de las Heras; Jerry Vockley; M. Alex Bellenger; Geetanjoli Banerjee; Ethan J. Schwartz

Riparbelli, L.; Dionisi-Vici, P.; Mazzanti, P.; Brémand, F.; Dupré, J.C.; Fioravanti, M.; Goli, G.; Helfer, T.; Hesser, F.; Jullien, D.; Mandron, P.; Ravaud, E.; Togni, M.; Uzielli, L.; Badel, E.; Gril, J.

Journal of Cultural Heritage. 62:376-386

Mew, Nicholas Ah ; Seminara, Jennifer ; Burrage, Lindsay C. ; Berry, Gerard T. ; Breilyn, Margo ; Schulze, Andreas ; Harding, Cary O. ; Berry, Susan A. ; Wong, Derek ; McCandless, Shawn E. ; Baumgartner, Matthias R. ; Konczal, Laura ; Ficicioglu, Can ; Diaz, George A. ; Coughlin, Curtis R., 2nd ; Enns, Gregory M. ; Gallagher, Renata C. ; Lam, Christina ; Stricker, Tamar ; Wilkening, Greta ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Blasco-Alonso, Javier ; Burlina, Alberto B. ; Freisinger, Peter ; van Hasselt, Peter M. ; Skouma, Anastasia ; Lund, Allan M. ; Vara, Roshni ; Sarajlija, Adrijan ; Morris, Andrew A. ; Chakrapani, Anupam ; Barić, Ivo ; Augoustides-Savvopoulou, Persephone ; Chien, Yin-Hsiu ; Cortès-Saladelafont, Elisenda ; Eyskens, Francois ; Gramer, Gwendolyn ; Zeman, Jiri ; Karall, Daniela ; Couce, Maria L. ; Mühlhausen, Chris ; Pedrón-Giner, Consuelo ; Spiekerkoetter, Ute ; Sykut-Cegielska, Jolanta ; Wagenmakers, Margreet ; Wijburg, Frits A. ; Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Scharre, Svenja ; Okun, Jürgen G. ; Gropman, Andrea L. ; Nagamani, Sandesh C.S. ; Druck, Ann-Catrin ; Epp, Friederike ; Hoffmann, Georg F. ; Kölker, Stefan ; Zielonka, Matthias

In Genetics in Medicine April 2024 26(4)

Scharre, Svenja; Posset, Roland; Garbade, Sven F.; Gleich, Florian; Seidl, Marie J.; Druck, Ann‐Catrin; Okun, Jürgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Hoffmann, Georg F.; Kölker, Stefan; Zielonka, Matthias; Ah Mew, Nicholas; Baumgartner, Matthias R.; Berry, Gerard T.; Berry, Susan A.; Burrage, Lindsay; Diaz, George A.; Ficicioglu, Can; Kisin, Genya; Konczal, Laura; Lam, Christina; McCandless, Shawn E.; Merritt, J. Lawrence; Schulze, Andreas; Walter, Magdalena E.; Wilson, Ashley; Wong, Derek; Arnaudo, Florence; Augoustides‐ Savvopoulou, Persephone; Barić, Ivo; Bosch, Annet M.; Cano, Aline; Chien, Yin‐Hsiu; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Eyskens, Francois; Freisinger, Peter; Garcia‐Cazorla, Angeles; Honzik, Tomas; Karall, Daniela; Lund, Allan M.; Murphy, Elaine; Santer, René; Schiff, Manuel; Skouma, Anastasia; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Zeman, Jiri; for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, 'Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726. https://doi.org/10.1002/acn3.51668
Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668

Felicetti, F; Gatti, F; Faraci, D; Rosso, D; Zavattaro, M; Fortunati, N; Marinelli, L; Leone, S; Gill, J; Dionisi-Vici, M; Dellacasa, C; Busca, A; Giaccone, L; Arvat, E; Bruno, B; Brignardello, E

Journal of Endocrinological Investigation. 46:1825-1834

Davide Vecchio; Marina Macchiaiolo; Michaela V. Gonfiantini; Filippo M. Panfili; Francesco Petrizzelli; Niccolò Liorni; Fabiana Cortellessa; Lorenzo Sinibaldi; Ippolita Rana; Emanuele Agolini; Dario Cocciadiferro; Nicole Colantoni; Michela Semeraro; Cristiano Rizzo; Annalisa Deodati; Nicola Cotugno; Serena Caggiano; Elisabetta Verrillo; Carlotta G. Nucci; Serpil Alkan; Jorge M. Saraiva; Joaquim De Sá; Pedro M. Almeida; Jayanth Krishna; Paola S. Buonuomo; Diego Martinelli; Carlo Dionisi Vici; Viviana Caputo; Andrea Bartuli; Antonio Novelli; Tommaso Mazza

Front Genet
Frontiers in Genetics, Vol 15 (2024)

Porta F; Maiorana A; Gragnaniello V; Procopio E; Gasperini S; Taurisano R; Spada M; Dionisi-Vici C; Burlina A.

Ital J Pediatr
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)

Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M; Sharma, Reena; Morris, Andrew AM; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Bernhardt, Isaac; Sudakhar, Sniya; Chan, Alicia; Mills, Philippa; Ridout, Debora; Gissen, Paul; Dionisi-Vici, Carlo; Baruteau, Julien

Epilepsia. 64:1612-1626

Verduci E; Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Tosi M; Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.; Zuvadelli J; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, 20142 Milan, Italy.; Giorda S; Department of Pediatrics, Metabolic Diseases, University of Turin, 10124 Turin, Italy.; Biasucci G; Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.; Department of Medicine and Surgery, University of Parma, 43121 Parma, Italy.; Leuzzi V; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.; Spada M; Department of Pediatrics, Metabolic Diseases, University of Turin, 10124 Turin, Italy.; Burlina A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, Reference Centre Expanded Newborn Screening, University Hospital, 35128 Padua, Italy.; Dionisi Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.

Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE

Rossi A; Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.; Pancaldi C; Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.; Regazzi MG; Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.; Agnelli G; Department of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy.; Assirelli V; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.; Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Via Pansini 5, 80131, Naples, Italy.; Baronio F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.; Benso A; Division of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Corso Dogliotti 14, 10126, Turin, Italy.; Bernabei SM; Department SITRA Nutritional Rehabilitation Unit, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.; Biasucci G; Department of Medicine and Surgery, University of Parma, Via Gramsci 14, 43125, Parma, Italy.; Pediatrics and Neonatology Unit, Regional Referral Clinical Center for Inborn Errors of Metabolism, Regional Referral Clinical Center for Pediatric Eating Disorders, Lipigen National Pediatric Center, Guglielmo da Saliceto Hospital, Via Taverna 49, 29121, Piacenza, Italy.; Botti M; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Bonfanti C; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Bordugo A; Regional Coordinating Centre for Rare Diseases, University Hospital of Udine, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.; Bruni G; Dietetic Unit, Meyer Children University Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.; Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Via Giustiniani 2, 35128, Padua, Italy.; Candela E; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.; Carbone MT; UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Via Fiore 6, 80129, Naples, Italy.; Carella R; Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.; Carubbi F; Metabolic Internal Medicine Unit, University Hospital of Modena at Baggiovara, University of Modena and Reggio Emilia, Via Giardini 1355, 41126, Modena, Italy.; Cianflone A; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Cipriani A; Dietetic Unit, Meyer Children University Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.; Coacci S; UOSD Diabetology, AST Fermo, Via Gigliucci 1, 63900, Fermo, Italy.; Da Prato G; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.; De Leo S; Unit of Child Neurology and Psychiatry, Department of Human Neruroscience, University Hospital Policlinico Umberto I of Rome, Sapienza University of Rome, Via Dei Sabelli 108, 00185, Rome, Italy.; Di Natale V; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.; Dianin A; Pediatric Unit Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata di Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.; Dionisi Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.; Fasan I; Division of Clinical Nutrition, Department of Medicine, University Hospital, Via Giustiniani 2, 35128, Padua, Italy.; Ferraro S; Pediatric Unit, Department of Health Sciences, Magna Graecia University of Catanzaro, Viale Europa, 88100, Catanzaro, Italy.; Filosto M; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Via Nava 4, 25064, Brescia, Italy.; Gasperini S; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Giorda S; Department of Pediatrics, Metabolic Diseases, University of Torino, Via Verdi 8, 10124, Turin, Italy.; Gugelmo G; Division of Metabolic Diseases, Department of Medicine, University Hospital of Padova, Via Giustiniani 2, 35128, Padua, Italy.; Guzzetti C; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico 'A. Cao', Via Jenner 18, 09121, Cagliari, Italy.; Latina C; Clinical Pediatrics and Pediatric Endocrinology and Diabetology, Azienda Ospedaliera Universitaria Policlinico 'G. Rodolico-San Marco', Via Sofia 78, 95123, Catania, Italy.; Loro C; Division of Clinical Nutrition, Department of Medicine, University Hospital, Via Giustiniani 2, 35128, Padua, Italy.; Maines E; Division of Pediatrics, S. Chiara General Hospital, APSS Trento, Largo Medaglie d'oro 9, 38122, Trento, Italy.; Marchi G; Internal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.; Massimino E; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Via Pansini 5, 80131, Naples, Italy.; Mita D; Department of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy.; Nardecchia F; Department of Human Neuroscience, Sapienza University, Viale Dell'Università 30, 00185, Rome, Italy.; Noto D; Department of Health Promotion, Maternal and Child Health, Internal and Specialized Medicine of Excellence 'G. D. Alessandro' (PROMISE), University of Palermo, Piazza Marina 61, 90133, Palermo, Italy.; Ortolano R; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.; Paci S; Department of the Women and the Child, Inborn Errors of Metabolism, San Paolo Hospital - ASST Santi Paolo e Carlo University of Milan, Via Antonio Di Rudinì 8, 20142, Milan, Italy.; Parini R; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Parolisi S; UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Via Fiore 6, 80129, Naples, Italy.; Paterno G; Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.; Pontillo L; Nutritional Center, Giannina Gaslini Pediatric Institute IRCCS, Via Gaslini 5, 16147, Genoa, Italy.; Pozzoli A; Pediatrics and Neonatology Unit, Regional Referral Clinical Center for Inborn Errors of Metabolism, Regional Referral Clinical Center for Pediatric Eating Disorders, Lipigen National Pediatric Center, Guglielmo da Saliceto Hospital, Via Taverna 49, 29121, Piacenza, Italy.; Pretese R; Metabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.; Quattrini S; Department of Pediatrics, Polytechnic University of Marche, Piazza Roma 22, 60121, Ancona, Italy.; Re Dionigi A; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Via Antonio di Rudinì 8, 20142, Milan, Italy.; Rovelli V; Department of the Women and the Child, Inborn Errors of Metabolism, San Paolo Hospital - ASST Santi Paolo e Carlo University of Milan, Via Antonio Di Rudinì 8, 20142, Milan, Italy.; Salera S; Regional Clinical Center for Expanded Newborn Screening, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Sforza 35, 20122, Milan, Italy.; Santini F; Endocrinology Unit, Obesity and Lipodystrophy Center, University Hospital of Pisa, Via Paradisa 8, 56124, Pisa, Italy.; Scala I; Department of Maternal and Child Health, Federico II University Hospital, Via Pansini 5, 80131, Naples, Italy.; Sechi A; Regional Coordinating Centre for Rare Diseases, University Hospital of Udine, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.; Sgattoni C; Medical Genetics and Rare Disease Coordination, Institute of Maternal-Infantile Sciences, Ospedali Riuniti, Presidio Torrette,Via Conca 61, 60126, Ancona, Italy.; Stecchi M; Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy.; Tavian A; SOSD Technical Health Care Professions - Dietitian and Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.; Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center of Messina for Rare Neuromuscular Disorders, University of Messina, Piazza Pugliatti 1, 98122, Messina, Italy.; Tummolo A; Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.; Urban ML; Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.; Verrecchia E; Department of Aging, Orthopaedic and Rheumatological Sciences, Centre for Continuity of Care and Frailty, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.; Vitturi N; Division of Metabolic Diseases, Department of Medicine, University Hospital of Padova, Via Giustiniani 2, 35128, Padua, Italy.; Zuppaldi C; Department of Translational Medicine, University of Naples 'Federico II', Via Pansini 5, 80131, Naples, Italy.; Zuvadelli J; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Via Antonio di Rudinì 8, 20142, Milan, Italy.; Brodosi L; Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy. lucia.brodosi2@unibo.it.; Department of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy. lucia.brodosi2@unibo.it.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Verduci E; Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.; Tosi M; Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.; Dionisi Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Spada M; Department of Pediatrics, University of Torino, 10124 Torino, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Ute Spiekerkoetter; Maria L Couce; Anibh M Das; Corinne de Laet; Carlo Dionisi-Vici; Allan M Lund; Manuel Schiff; Marco Spada; Erik Sparve; Johan Szamosi; Roshni Vara; Mattias Rudebeck

The Lancet Diabetes & Endocrinology. 9:427-435

Brennenstuhl H.; Nashawi M.; Schroter J.; Baronio F.; Beedgen L.; Gleich F.; Jeltsch K.; von Landenberg C.; Martini S.; Simon A.; Thiel C.; Tsiakas K.; Opladen T.; Kolker S.; Hoffmann G. F.; Haas D.; Garcia-Cazorla A.; Dionisi-Vici C.; Martinelli D.; Kozich V.; Scarpa M.

Journal of Inherited Metabolic Disease, 44, 5, pp. 1272-1287

Dionisi-Vici M.; Fantoni M.; Botto R.; Nervo A.; Felicetti F.; Rossetto R.; Gallo M.; Arvat E.; Torta R.; Leombruni P.

Endocrine

Mütze, Ulrike; Gleich, Florian; Garbade, Sven F; Plisson, Céline; Baumgartner, Matthias R; Huemer, Martina; Aldámiz‐Echevarría, Luis; Arrieta, Francisco; Ballhausen, Diana; Zielonka, Matthias; Petković Ramadža, Danijela; Cano, Aline; García Jiménez, María Concepción; Dionisi‐Vici, Carlo; Ješina, Pavel; Blom, Henk J; Couce, Maria Luz; Meavilla Olivas, Silvia; Mention, Karine; Mochel, Fanny; Morris, Andrew A M; Mundy, Helen; Redonnet‐Vernhet, Isabelle; Santra, Saikat; Schiff, Manuel; Servais, Aude; Vitoria, Isidro; Kožich, Viktor; Kölker, Stefan

JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733