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.

Rapid Free Communications

Bone, Growth Plate and Mineral Metabolism Session 2

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling
1Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China. 2Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China. 3Shanghai Synchrotron Radiation Facility, Shanghai Institute of Applied Physics, Chinese Academy of Sciences, Shanghai, China. 4Translational Medical Center for Development and Disease, Shanghai Key Laboratory of Birth Defect, Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China. 5Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, and Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China. 6Institute of Fudan-Minhang Academic Health System, Minhang Hospital, Fudan University, Shanghai, China. 7Human Phenome Institute, Fudan University, Shanghai, China
High Levels of LIGHT/TNFSF14 in Prader-Willi Syndrome
1Department of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University "A. Moro" of Bari, Bari, Italy. 2Dipartimento Pediatrico Universitario Ospedaliero, BambinoGesù Children's Hospital, Tor Vergata University, Roma, Italy. 3Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Roma, Italy. 4University of Bari, A. Moro, Bari, Italy. 5Department of Emergency and Organ Transplantation, University of, Bari, Italy. 6Istituto Auxologico Italiano, IRCCS, Division of Auxology and Metabolic Diseases, Piancavallo (VB), Italy. 7Department of Biomedical Sciences and Human Oncology, University A.Moro of Bari, Bari, Italy
Increased Burden of Common Risk Alleles in Children with a Significant Fracture History
1Lady Davis Institute for Medical Research, McGill University, Montreal, Canada. 23Department of Molecular Medicine and Surgery, Karolinska Institutet,, Stockholm, Sweden. 3Lady Davis Institute for Medical Research, Montreal, Canada. 4Division of Endocrinology, Children's Hospital, Helsinki University Hospital and Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland. 5Shriners Hospitals for Children, Montreal, Canada. 6McGill Genome Center, Montreal, Canada
Targeted Molecular Genetic Diagnosis by Next Generation Sequence Analysis Method and Investigation of Responsible Candidate Genes in Patients with Osteogenesis Imperfecta
1Ege University School of Medicine, Department of Pediatric Endocrinology, Izmir, Turkey. 2Ege University School of Medicine, Department of Pediatric Genetics, Izmir, Turkey. 3Ege University School of Medicine, Department of Medical Genetics, Izmir, Turkey. 4Ege University School of Medicine, Department of Medical Genetics, Izmir, Turkey
Evaluating Genotype-Phenotype Correlation using an in vitro Mutagenesis Model in Bi-Allelic Mutations Resulting in Extreme Hypophosphatasia Clinical Phenotypes
1Birmingham Women's and Children's Hospital, Birmingham, United Kingdom. 2University of Birmingham, Birmingham, United Kingdom. 3Nippon Medical School, Tokyo, Japan. 4Johannes Kepler University, Linz, Austria