Previous issue | Volume 92 | ESPE2019

58th Annual ESPE meeting

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Free Communications

Multi-system Endocrine Disorders

Germline-Derived Gain-of-Function Variants of Gsa-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report
1National Research Institute for Child Health and Development, Tokyo, Japan. 2Tokyo Dental College Ichikawa General Hospital, Ichikawa, Japan. 3Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. 4Hamamatsu University School of Medicine, Hamamatsu, Japan
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CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis
1Department of Mother and Child, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. 2Interdepartmental Center SITEIA.PARMA, University of Parma, Parma, Italy. 3Department of Paediatrics, University Hospital of Parma, Parma, Italy. 4Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy
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Variability in Drug Metabolizing Cytochrome P450 Activities Caused by Human Genetic Variations in NADPH Cytochrome P450 Oxidoreductase (POR)
1University Children's Hospital Bern, Bern, Switzerland. 2Department of Biomedical Research, University of Bern, Bern, Switzerland
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Droplet Digital PCR is a Useful Method for Detection of Mosaic Mutations in Patients with McCune-Albright Syndrome
1Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. 2Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
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Evaluation of Endocrine Late Effects in Survivors of Childhood Allogeneic Hematopoietic Stem Cell Transplantation in Australia – Database from 1985 to 2011
1Royal Children's Hospital Melbourne, Melbourne, Australia. 2Murdoch Children's Research Institute, Melbourne, Australia
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Severe Infections Contribute to Increased Risk of Early Death in Patients with Apeced
1Helsinki University Hospital and University of Helsinki, Helsinki, Finland. 2Folkhälsan Research Center, Helsinki, Finland
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