Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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journeys’ (PJ) are instruments developed to collect information on patients’ experiences in many areas of medicine, including rare diseases ( 8 ). They are simple ways to make visible the needs of a community of patients that can complete the view of the
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Parelsnoer Institute, Utrecht, The Netherlands
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Introduction Rare diseases that affect less than one in 2000 people, pose challenges in supporting patients and physicians with evidence-based guidelines of sufficient quality ( 1 ). Medical decision making becomes challenging when guidelines
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Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France
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Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France
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Introduction In the European Union, a disease is considered rare when it affects fewer than one person in 2000 ( 1 ). Awareness of rare diseases has increased in the European Union since 2009 when the Council of the European Union asked the
Department of Endocrinology, Diabetes and Nutrition, University Hospital of Bordeaux, Bordeaux, France
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Sorbonne Université, F-75013, Paris, France
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Introduction Multiple fibroadenomas (MFA) of the breast, defined by the unilateral or bilateral existence of at least three fibroadenomas (FA) in one breast, is a rare benign disease, and thus its natural history is poorly understood ( 1
Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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IRCCS SDN, Naples, Italy
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APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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Introduction X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked ( PHEX ) gene and characterized by chronic hypophosphatemia. Impaired function of PHEX
IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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In addition, a 13-item physician questionnaire was developed to assess physicians’ perspectives on CS symptoms and comorbidities. This physician questionnaire was conducted by HRA Pharma Rare Diseases at the 2019 European Congress of Endocrinology, in
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Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan Italy
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Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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with the ESE Rare Disease Committee in April 2020, this platform was extended for reporting COVID-19 infection in a patient with an existing rare endocrine or bone condition. Upon reporting a case, a unique ID was generated instantaneously for each case
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Background Pediatric differentiated thyroid carcinoma (DTC) is a rare disease, although it is the most frequent endocrine malignancy in children, representing 2–4% of all pediatric malignancies. According to the Surveillance, Epidemiology, and
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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-Gauillard H Cartes A Bouligand J Young J . Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life . Orphanet Journal of Rare Diseases 2015 10 71. ( https://doi.org/10.1186/s13023-015-0287-9 ) 8 Kohva E Huopio H Hietamäki J
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Introduction With the emergence of the COVID-19 pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it was soon realized that the disease affects not only the respiratory system but also multiple organs and