ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
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.

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Multi-system Endocrine Disorders

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Bone, Growth Plate and Mineral Metabolism Session 1
Table of contents
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Fat Metabolism and Obesity Session
Germline-Derived Gain-of-Function Variants of Gsa-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report
Fukami Maki   Miyado Mami   Takada Shuji   Sasaki Goro   Nagasaki Keisuke   Masunaga Youhei   Saitsu Hirotomo   Ogata Tsutomu  
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
Cirillo Francesca   Catellani Cecilia   Graziano Sara   Montanini Luisa   Smerieri Arianna   Lazzeroni Pietro   Sartori Chiara   Marmiroli Nelson   Amarri Sergio   Gullì Mariolina   Elisabeth Street Maria  
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)
Velazquez Maria Natalia Rojas   Parween Shaheena   Pandey Amit V  
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
Watanabe Satoshi   Dateki Sumito   Moriuchi Hiroyuki   Yoshiura Koh-ichiro  
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
Lai-Ka Lee Samantha   Tiedemann Karin   Zacharin Margaret  
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
Borchers Joonatan   Mäkitie Outi   Laakso Saila  
1Helsinki University Hospital and University of Helsinki, Helsinki, Finland. 2Folkhälsan Research Center, Helsinki, Finland
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