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3 - Pubertät

Autor: Dunstheimer, D., Hoyer-Kuhn, H.

Publikováno v: In FAQ Kinder- und Jugendgynäkologie 2023:49-61

Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH).

Autor: Hoyer-Kuhn H; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Eckert AJ; Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, 89081 Ulm, Germany., Binder G; Pediatric Endocrinology, University-Children's Hospital Tübingen, 72076 Tübingen, Germany., Bonfig W; Department of Pediatrics, Klinikum Wels-Grieskirchen, 4600 Wels, Austria.; Department of Pediatrics, Technical University of Munich, TUM School of Medicine, 80804 Munich, Germany., Dübbers A; Department of Pediatrics, University Hospital Münster, 48149 Münster, Germany., Riedl S; Division of Pediatric Pulmology, Allergology and Endocrinology, Department of Pediatrics, Medical University of Vienna, 1090 Wien, Austria.; Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, 1090 Wien, Austria., Woelfle J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, 91054 Erlangen, Germany., Dörr HG; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, 91054 Erlangen, Germany., Holl RW; Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, 89081 Ulm, Germany.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Oct 18; Vol. 108 (11), pp. e1199-e1204.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Autor: Irving M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. Melita.Irving@gstt.nhs.uk., AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Center and Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia., Arundel P; Department of Metabolic Bone Disease, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Baujat G; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar., Boero S; Pediatric Orthopaedic and Traumatology Unit, Istituto Giannina Gaslini, Genoa, Italy., Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Fredwall S; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway., Guillen-Navarro E; Medical Genetics Section, Department of Pediatrics, Virgen de la Arrixaca University Clinical Hospital, IMIB-Pascual Parrilla, University of Murcia-UMU, Murcia; CIBERER-ISCIII, Madrid, Spain., Hoyer-Kuhn H; Children's Hospital, University Cologne, Cologne, Germany., Kunkel P; Department of Neurosurgery, University Medical Centre Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Lampe C; Clinic of Neuropediatrics, Epileptology and Social Pediatrics, University Hospital Giessen and Marburg, Giessen, Germany., Maghnie M; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, 16147, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, 16147, Italy., Mohnike K; Central German Competence Network for Rare Diseases (ZSE), Universitätskinderklinik, Otto-von-Guericke Universität, Magdeburg, Germany., Mortier G; Department of Medical Genetics and Centre for Rare Diseases, Centre of Human Genetics, KU Leuven, Leuven, Belgium., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra; and University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 27; Vol. 18 (1), pp. 219. Date of Electronic Publication: 2023 Jul 27.

Bone Microarchitecture Assessed by Trabecular Bone Score Is Independent of Mobility Level or Height in Pediatric Patients with Cerebral Palsy.

Autor: Rehberg M; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany., Azim M; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany., Martakis K; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany.; Department for Pediatric Neurology, Social Pediatrics and Epileptology, Justus-Liebig University Giessen and University Hospital of Giessen and Marburg (UKGM), Giessen, Germany.; Department of International Health, School Care and Public Health Research Institute (CAPHRI), Maastricht University, Maastricht, The Netherlands., Winzenrieth R; R&D Department, Medimaps Société par Actions Simplifiée Unipersonnelle (SASU), Merignac, France., Hoyer-Kuhn H; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany., Schoenau E; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany.; Center of Prevention and Rehabilitation, University Hospital Cologne, Cologne, Germany., Semler O; Department of Pediatrics, University of Cologne, Medical Faculty and University Hospital, Cologne, Germany.; Cologne Centre for Rare Skeletal Dysplasia in Childhood, University Hospital Cologne, Cologne, Germany., Duran I; Center of Prevention and Rehabilitation, University Hospital Cologne, Cologne, Germany.

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2020 Sep; Vol. 35 (9), pp. 1685-1694. Date of Electronic Publication: 2020 Jun 01.