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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Free Communications

Bone & Mineral Metabolism

Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3
aThe Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; bPaediatric Endocrine Unit, Ha’Emek Medical Centre, Afula, Israel; cDepartment of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA; dDivision of Endocrinology and Diabetes, Center for Bone Health, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients
aThe Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; bDivision of Endocrinology and Diabetes, Center for Bone Health, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; cDepartment of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
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High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias
aInstitute of Medical and Molecular Genetics (INGEMM) and UMDE, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain; bCIBERER, ISCIII, Madrid, Spain; cDepartment of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain; dDepartment of Pediatric Endocrinology and UMDE, Hospital Universitario La Paz, Madrid, Spain; eDepartment of Genetics, Hospital Virgen de la Arrixaca, Murcia, Spain; fDepartment of Pediatric Endocrinology, Hospital Universitario de Salamanca, Salamanca, Spain; gDepartment of Pediatric Endocrinology and Dysmorphology, Hospital Universitario 12 de Octubre, Madrid, Spain; hDepartment of Clinical Genetics, Hospital Materno Infantil de Badajoz, Badajoz, Spain; iDepartment of Pediatric Endocrinology, Hospital Terrassa, Terrassa, Spain
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Asfotase Alfa: Sustained Efficacy and Tolerability in Children with Hypophosphatasia Treated for 5 Years
aShriners Hospital for Children, St Louis, Missouri, USA; bUniversity of Manitoba, Winnipeg, Manitoba, Canada; cAlexion Pharmaceuticals, Cheshire, Connecticut, USA
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Methyl Donor Deficiency Impairs Differentiation of Pre-Osteoblasts Through Disruption of Functional Interaction Between Peroxisome Proliferator-Activated Receptor-Gamma Coactivator-1 Alpha and Vitamin D Receptor
aINSERM U954, Nutrition Génétique et Exposition aux Risques Environnementaux, Faculté de Médecine, Université de Lorraine, Vandœuvre les Nancy, France; bMédecine interne, diabétologie et maladies métaboliques, Centre Hospitalier Universitaire, Poitiers, France; cService d’endocrinologie, Centre Hospitalier Universitaire, Vandœuvre les Nancy, France
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A Contextual Feature-Based Recognition Approach to Quantify Trabecular Microstructure Using 1.5T Axial-MRI: An Innovative Methodology
aSheffield Children’s Hospital, Sheffield, South Yorkshire, UK; bThe University of Sheffield, Sheffield, South Yorkshire, UK; cUniversitat Pompeu Fabra, Barcelona, Spain
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