Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities
This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich’s ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.
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Table of Contents
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1 - 25: Neonatal Diabetes: Permanent Neonatal Diabetes and Transient Neonatal DiabetesByFabrizio Barbetti;Fabrizio BarbettiaDepartment of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome,bBambino Gesù Children's Hospital, Rome,cS. Pietro Hospital - Fatebenefratelli, Rome, andSearch for other works by this author on:Corrado Mammì;Corrado MammìdMedical Genetics Unit, BMM Great Metropolitan Hospital, Reggio Calabria, Italy;Search for other works by this author on:Ming Liu;Ming LiueDivision of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China;Search for other works by this author on:Valeria Grasso;Valeria GrassobBambino Gesù Children's Hospital, Rome,Search for other works by this author on:Peter Arvan;Peter ArvanfDivision of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, and Departments ofSearch for other works by this author on:Colin G. NicholsColin G. NicholshCell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USASearch for other works by this author on:
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26 - 48: Maturity-Onset Diabetes of the Young: From Genetics to Translational Biology and Personalized MedicineByMartine Vaxillaire;Martine VaxillaireaCNRS-UMR 8199, Integrative Genomics and Modelling of Metabolic Diseases, Lille Pasteur Institute,bLille University, andcEuropean Genomic Institute for Diabetes (EGID), Lille, France;Search for other works by this author on:Philippe FroguelPhilippe FroguelaCNRS-UMR 8199, Integrative Genomics and Modelling of Metabolic Diseases, Lille Pasteur Institute,bLille University, andcEuropean Genomic Institute for Diabetes (EGID), Lille, France;dDepartment of Genomics of Common Diseases, School of Public Health, Hammersmith Hospital, Imperial College Faculty of Medicine, London, UKSearch for other works by this author on:
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49 - 54: Thiamine-Responsive Megaloblastic Anemia SyndromeByAdriana Franzese;Adriana FranzeseSection of Pediatrics, Department of Translational Sciences, Federico II University of Naples, Naples, ItalySearch for other works by this author on:Valentina Fattorusso;Valentina FattorussoSection of Pediatrics, Department of Translational Sciences, Federico II University of Naples, Naples, ItalySearch for other works by this author on:Enza MozzilloEnza MozzilloSection of Pediatrics, Department of Translational Sciences, Federico II University of Naples, Naples, ItalySearch for other works by this author on:
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55 - 68: Diabetes Mellitus in Mitochondrial DiseaseByYi Shiau Ng;Yi Shiau NgWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UKSearch for other works by this author on:Robert W. Taylor;Robert W. TaylorWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UKSearch for other works by this author on:Andrew M. SchaeferAndrew M. SchaeferWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UKSearch for other works by this author on:
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69 - 77: Diabetes in Wolfram Syndrome: Update of Clinical and Genetic AspectsByLuciana Concetta Rigoli;Luciana Concetta RigoliaDepartment of Pediatrics, Medical School, University of Messina, Messina, andSearch for other works by this author on:Giuseppe dʼAnnunzioGiuseppe dʼAnnunziobRegional Center for Pediatric Diabetes, IRCCS Istituto Giannina Gaslini, Genova, ItalySearch for other works by this author on:
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78 - 90: Type 1 Diabetes Mellitus in Monogenic Autoimmune DiseasesByRosa Bacchetta;Rosa BacchettaaDivision of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA;Search for other works by this author on:Maria Elena MaccariMaria Elena MaccaribSan Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells, and Gene Therapy, San Raffaele Scientific Institute, Milan, ItalySearch for other works by this author on:
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91 - 103: Genetic and Immunological Features of Insulin-Dependent Diabetes Mellitus as a Clinical Manifestation of Type 1 Autoimmune Polyglandular SyndromeByAlessandra Fierabracci;Alessandra FierabracciInfectivology and Clinical Trials Area, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:Benedetta RussoBenedetta RussoInfectivology and Clinical Trials Area, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:
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104 - 118: Syndromes Associated with Mutations in the Insulin Signalling PathwayBySarah M. Leiter;Sarah M. LeiterUniversity of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UKSearch for other works by this author on:Robert K. SempleRobert K. SempleUniversity of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UKSearch for other works by this author on:
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119 - 133: Insulin Resistance and Diabetes Associated with LipodystrophiesBySarah M. Leiter;Sarah M. LeiterUniversity of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UKSearch for other works by this author on:Robert K. SempleRobert K. SempleUniversity of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UKSearch for other works by this author on:
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134 - 144: Alström SyndromeByPietro Maffei;Pietro MaffeiaDipartimento di Medicina (DIMED), Padua University, Padua, Italy;Search for other works by this author on:Francesca Favaretto;Francesca FavarettoaDipartimento di Medicina (DIMED), Padua University, Padua, Italy;Search for other works by this author on:Gabriella Milan;Gabriella MilanaDipartimento di Medicina (DIMED), Padua University, Padua, Italy;Search for other works by this author on:Jan D. MarshallJan D. MarshallbThe Jackson Laboratory, Bar Harbor, ME, andcAlström Syndrome International, Mount Desert, ME, USASearch for other works by this author on:
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145 - 150: Prader-Willi SyndromeByGraziano GrugniGraziano GrugniDivision of Auxology, S. Giuseppe Hospital Research Institute, Italian Auxological Institute, Verbania, ItalySearch for other works by this author on:
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151 - 159: 47,XXY Klinefelter Syndrome Is Associated with an Increased Risk of Insulin Resistance: The Impact of Hypogonadism and Visceral ObesityByFrancesca Panimolle;Francesca PanimolleCenter of Rare Diseases, Section of Medical Pathophysiology, Department of Experimental Medicine, Sapienza University of Rome, Rome, ItalySearch for other works by this author on:Antonio F. RadicioniAntonio F. RadicioniCenter of Rare Diseases, Section of Medical Pathophysiology, Department of Experimental Medicine, Sapienza University of Rome, Rome, ItalySearch for other works by this author on:
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160 - 165: Down Syndrome (Trisomy 21) and DiabetesByCarla Bizzarri;Carla BizzarriEndocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:Marco CappaMarco CappaEndocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:
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166 - 171: Turner Syndrome and DiabetesByArmando Grossi;Armando GrossiEndocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:Marco CappaMarco CappaEndocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalySearch for other works by this author on:
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172 - 181: Diabetes in Friedreich AtaxiaByShaolu Ran;Shaolu RanDepartment of Molecular Neuroscience, Ataxia Centre, Institute of Neurology, University College London (UCL), London, UKSearch for other works by this author on:Rosella Abeti;Rosella AbetiDepartment of Molecular Neuroscience, Ataxia Centre, Institute of Neurology, University College London (UCL), London, UKSearch for other works by this author on:Paola GiuntiPaola GiuntiDepartment of Molecular Neuroscience, Ataxia Centre, Institute of Neurology, University College London (UCL), London, UKSearch for other works by this author on:
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182 - 187: Diabetes in Myotonic DystrophyByJulia R. Dahlqvist;Julia R. DahlqvistCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkSearch for other works by this author on:John VissingJohn VissingCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkSearch for other works by this author on: