Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Autor: Maines E; Division of Pediatrics, Santa Chiara General Hospital, APSS Trento, 38122 Trento, Italy., Franceschi R; Division of Pediatrics, Santa Chiara General Hospital, APSS Trento, 38122 Trento, Italy., Rivieri F; Genetic Unit, Laboratory of Clinical Pathology, Department of Laboratories, APSS Trento, 38122 Trento, Italy., Piccoli G; CIBIO-Department of Cellular, Computational and Integrative Biology, Università degli Studi di Trento, 38122 Trento, Italy., Schulte B; CeGaT GmbH Tuebingen, 72076 Tuebingen, Germany., Hoffmann J; CeGaT GmbH Tuebingen, 72076 Tuebingen, Germany., Bordugo A; Inherited Metabolic Disease Unit, Pediatric Department, AOUI Verona, 37134 Verona, Italy., Rodella G; Inherited Metabolic Disease Unit, Pediatric Department, AOUI Verona, 37134 Verona, Italy., Teofoli F; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI Verona, 37134 Verona, Italy., Vincenzi M; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI Verona, 37134 Verona, Italy., Soffiati M; Division of Pediatrics, Santa Chiara General Hospital, APSS Trento, 38122 Trento, Italy., Camilot M; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI Verona, 37134 Verona, Italy.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Jul 18; Vol. 10 (3). Date of Electronic Publication: 2024 Jul 18.

Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).

Autor: De Angelis S; Department of Cardiovascular and Endocrine-Metabolic Diseases and Aging, Italian National Institute of Health, Rome 00161, Italy., Medda E; Reference Center for Behavioral Sciences and Mental Health, Italian National Institute of Health, Rome 00161, Italy., Rotondi D; Department of Cardiovascular and Endocrine-Metabolic Diseases and Aging, Italian National Institute of Health, Rome 00161, Italy., Masocco M; National Centre for Disease Prevention and Health Promotion, Italian National Institute of Health, Rome 00161, Italy., Minardi V; National Centre for Disease Prevention and Health Promotion, Italian National Institute of Health, Rome 00161, Italy., Contoli B; National Centre for Disease Prevention and Health Promotion, Italian National Institute of Health, Rome 00161, Italy., Possenti V; National Centre for Disease Prevention and Health Promotion, Italian National Institute of Health, Rome 00161, Italy., Sorbo A; Department of Food Safety, Nutrition and Veterinary Public Health, Italian National Institute of Health, Rome 00161, Italy., D'Amato M; Department of Food Safety, Nutrition and Veterinary Public Health, Italian National Institute of Health, Rome 00161, Italy., Turco AC; Department of Food Safety, Nutrition and Veterinary Public Health, Italian National Institute of Health, Rome 00161, Italy., Pastorelli AA; Department of Food Safety, Nutrition and Veterinary Public Health, Italian National Institute of Health, Rome 00161, Italy., Stacchini P; Department of Food Safety, Nutrition and Veterinary Public Health, Italian National Institute of Health, Rome 00161, Italy., Cas RD; National Centre for Drug Research and Evaluation, Italian National Institute of Health, Rome 00161, Italy., Bagnasco M; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa 16132, Italy., Bonofiglio D; Department of Pharmacy, Health and Nutritional Sciences, Centro Sanitario, University of Calabria, Cosenza 87036, Italy., Gasperi M; Department of Medicine and Health Sciences 'V. Tiberio,' University of Molise, Campobasso 86100, Italy., Meringolo D; Endocrinology Unit, Ramazzini Institute, Bologna 40138, Italy., Mian C; Department of Medicine, University of Padua, Padua 35128, Italy., Moleti M; Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Vermiglio F; Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Puxeddu E; Department of Medicine and Surgery, University of Perugia, Perugia 06132, Italy., Taccaliti A; Department of Clinical and Molecular Sciences, Polytechnic University of Marche, Ancona 60126, Italy., Tonacchera M; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56124, Italy., Ulisse S; Department of Surgery, 'Sapienza' University of Rome, Rome 00185, Italy., Dimida A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56124, Italy., Rago T; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56124, Italy., Nazzari E; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa 16132, Italy., Schiavo M; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa 16132, Italy., Bossert I; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa 16132, Italy., Sturniolo G; Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Corbetta C; Department of Woman, Mother and Neonate, 'Vittore Buzzi' Children's Hospital, Milan 20154, Italy., Cereda C; Department of Pediatrics, 'Vittore Buzzi' Children's Hospital, Milan 20154, Italy., Cappelletti L; Department of Pediatrics, 'Vittore Buzzi' Children's Hospital, Milan 20154, Italy., Camilot M; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Verona 37134, Italy., Teofoli F; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Verona 37134, Italy., Ciatti R; Azienda Ospedaliera Ospedali Riuniti Marche Nord, Presidio Ospedaliero Santa Croce, Fano 61032, Italy., Tarsi E; Azienda Ospedaliera Ospedali Riuniti Marche Nord, Presidio Ospedaliero Santa Croce, Fano 61032, Italy., Perrotti N; Department of Health Sciences, University Magna Graecia, Catanzaro 88100, Italy., Marasco O; Regional Neonatal Screening Laboratory, Azienda Ospedaliera Mater Domini, Catanzaro 88100, Italy., Scozzafava G; Regional Neonatal Screening Laboratory, Azienda Ospedaliera Mater Domini, Catanzaro 88100, Italy., Righetti F; Regional Laboratory for Neonatal Screening and Endocrine-Metabolic Diseases, IRCCS University Sant'Orsola Hospital, Bologna 40138, Italy., Andò S; Department of Pharmacy, Health and Nutritional Sciences, Centro Sanitario, University of Calabria, Cosenza 87036, Italy., Catalano S; Department of Pharmacy, Health and Nutritional Sciences, Centro Sanitario, University of Calabria, Cosenza 87036, Italy.; Annunziata Hospital, Cosenza 87100, Italy., Cristofaro M; S.C. Diabetes and Endocrine Diseases, Cardarelli Hospital, Campobasso 86100, Italy., Sorrenti G; Endocrinology Unit, Ramazzini Institute, Bologna 40138, Italy., Censi S; Department of Medicine, University of Padua, Padua 35128, Italy., Morelli S; Department of Medicine and Surgery, University of Perugia, Perugia 06132, Italy., Baldini E; Department of Surgery, 'Sapienza' University of Rome, Rome 00185, Italy., Plutino G; General Direction of Food Safety and Nutrition, Italian Ministry of Health, Rome 00144, Italy., Copparoni R; General Direction of Food Safety and Nutrition, Italian Ministry of Health, Rome 00144, Italy., Alonzo E; Food Hygiene and Nutrition Service-SIAN, Local Health Authority of Catania, Catania 95027, Italy., Giacomozzi C; Department of Cardiovascular and Endocrine-Metabolic Diseases and Aging, Italian National Institute of Health, Rome 00161, Italy., Silano M; Department of Cardiovascular and Endocrine-Metabolic Diseases and Aging, Italian National Institute of Health, Rome 00161, Italy., Olivieri A; Department of Cardiovascular and Endocrine-Metabolic Diseases and Aging, Italian National Institute of Health, Rome 00161, Italy.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jan 18; Vol. 109 (2), pp. e495-e507.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Autor: Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Biotecnologie Avanzate Scarl, 80131 Naples, Italy., Malvagia S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy., Boenzi S; Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy., Carducci C; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Dionisi-Vici C; Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy., Teofoli F; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy., Burlina A; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy., Angeloni A; Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy., Aronica T; Ospedale Civico ARNAS PA, 90127 Palermo, Italy., Bordugo A; Inherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, Italy., Bucci I; Center for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Camilot M; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy., Carbone MT; UOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, Italy., Cardinali R; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy., Carducci C; Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy., Cassanello M; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Castana C; Ospedale Civico ARNAS PA, 90127 Palermo, Italy., Cazzorla C; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy., Ciatti R; Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile-A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy., Ferrari S; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Biotecnologie Avanzate Scarl, 80131 Naples, Italy., Funghini S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, Italy., Gasperini S; Pediatric Department, San Gerardo Hospital, 20900 Monza, Italy., Gragnaniello V; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy., Guzzetti C; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico 'A. Cao', 09121 Cagliari, Italy., La Marca G; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy., La Spina L; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico 'G. Rodolico-San Marco', 95123 Catania, Italy., Lorè T; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy., Meli C; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico 'G. Rodolico-San Marco', 95123 Catania, Italy., Messina M; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico 'G. Rodolico-San Marco', 95123 Catania, Italy., Morrone A; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's University Hospital, 50139 Florence, Italy., Nardecchia F; Dipartimento di Neuroscienze Umane-Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, Italy., Ortolano R; UO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Parenti G; Dipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, Italy., Pavanello E; SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy., Pieragostino D; Center for Advanced Studies and Technology (CAST) and Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Pillai S; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico 'A. Cao', 09121 Cagliari, Italy., Porta F; SC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy., Righetti F; Centro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Rossi C; Center for Advanced Studies and Technology (CAST) and Department of Psychological, Health and Territory Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Rovelli V; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy., Salina A; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Santoro L; Ospedale Civico ARNAS PA, 90127 Palermo, Italy., Sauro P; SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy., Schiaffino MC; Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Simonetti S; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy., Vincenzi M; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy., Tarsi E; Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile-A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy., Uccheddu AP; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico 'A. Cao', 09121 Cagliari, Italy.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2022 Aug 09; Vol. 8 (3). Date of Electronic Publication: 2022 Aug 09.

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

Autor: Maguolo A; Department of Mother and Child, University of Verona, I-37126 Verona, Italy., Rodella G; Department of Mother and Child, University of Verona, I-37126 Verona, Italy.; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy., Giorgetti A; Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy., Nicolodi M; Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy., Ribeiro R; Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, D-52425 Jülich, Germany., Dianin A; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.; Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy., Cantalupo G; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy., Monge I; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy., Carcereri S; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.; Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy., De Bernardi ML; Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.; Department of Molecular Medicine and Biotecnology, AOU Federico II, I-80131 Napoli, Italy., Delledonne M; Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy., Pasini A; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Campostrini N; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Ion Popa F; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Piacentini G; Department of Mother and Child, University of Verona, I-37126 Verona, Italy.; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Teofoli F; Department of Mother and Child, University of Verona, I-37126 Verona, Italy.; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Vincenzi M; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Camilot M; Department of Mother and Child, University of Verona, I-37126 Verona, Italy.; Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy., Bordugo A; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.; Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.

Publikováno v: Genes [Genes (Basel)] 2022 Jan 26; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 26.