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. McCune–Albright syndrome . Orphanet Journal of Rare Diseases 2008 3 12 . ( https://doi.org/10.1186/1750-1172-3-12 ) 2 Weinstein LS Shenker A Gejman PV Merino MJ Friedman E Spiegel AM. Activating mutations of the stimulatory G protein in the
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reports are send to all participating centers twice a year. These reports might be a useful tool for treatment improvement and standardization. CAH is one of approximately 5000–8000 known rare diseases that affect about 6% of the population. Standardized
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half of the normal range who have hyperglycaemia. Declaration of interest MG has received speaker fees from Recordati Rare Diseases, Ipsen, Crinetics Pharmaceuticals, and Novo Nordisk and attended advisory boards for Novo Nordisk, Recordati Rare
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK
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Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
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Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus
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Sussex Community NHS Trust, Brighton, UK
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, together with those with an interest in PWS, often a paediatric endocrinologist, as similar multi-disciplinary models have successfully worked in other countries (e.g. Rare Diseases Center of Reference ‘Prader-Willi Syndrome and Obesity with Eating
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Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Service d’Endocrinologie et Diabète de l’Enfant, Centre de Référence des Maladies Rares du Calcium et du Phosphore et Filière de Santé Maladies Rares OSCAR, Hôpital Bicêtre Paris Saclay, Le Kremlin-Bicêtre, France
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Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 – CNRS UMR 8253, Paris, France
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Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Biochimie et Génétique Moléculaires, Paris, France
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Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France
CNRS, ERL8228, Paris, France
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%) cohorts. Considering international guidelines recommending targeting symptoms, PCa, PPi, and UCa, only 31 (26%) physicians and 29 (32%) ePatients were fully in agreement with the guidelines. Discussion Hypoparathyroidism is a rare disease that
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INSERM, UMRS 1166, Nutriomic Group 6, Paris, France
Sorbonne Université, UMRS1166, Paris, France
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, 16 ). The transition from pediatric to adult health care is even more challenging in adolescents with PWS, especially because of cognitive and psychiatric disorders. Moreover, PWS is a rare disease characterized by a complex disability. Medical care
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. Genetics in Medicine 2017 19 1055 – 1063 . ( https://doi.org/10.1038/gim.2017.1 ) 8 Wright CF FitzPatrick DR Firth HV . Paediatric genomics: diagnosing rare disease in children . Nature Reviews: Genetics 2018 19 325. ( https://doi.org/10.1038/nrg
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-Willi syndrome . Orphanet Journal of Rare Diseases 2017 12 118. ( https://doi.org/10.1186/s13023-017-0673-6 ) 2 Tauber M Hoybye C . Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction . Lancet. Diabetes
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Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
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Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, Le Kremlin Bicêtre, France
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APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France
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all patients affected with XLHR who underwent at least one orthopedic surgery in Necker hospital, Paris and in the Centre Hospitalier Universitaire, Besançon, France. Patients were identified through the Reference Center of Rare Diseases of Calcium and
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Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil
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high enough for a rare disease study. Finally, another possible limitation of the present study is that the non-NF1 controls were selected from ELSA data without systematic exclusion of conditions, other than DM, that could alter FBG level. Conclusions