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Tytuł :
French recommendations for the management of Behçet's disease.
Autorzy :
Kone-Paut I; Pediatric Rheumatology and CEREMAIA, Bicêtre Hospital APHP, University of Paris Sud Saclay, Le Kremlin-Bicêtre, France. .
Barete S; Unit of Dermatology, DMU3ID, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), INSERM-UMRS 959, Sorbonne Universités, Paris, France.
Bodaghi B; Department of Ophthalmology, CRMR OPHTARA, IHU FOReSIGHT, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Deiva K; Department of Pediatric Neurology, National Referral Center for Rare Inflammatory Brain and Spinal Diseases, Assistance Publique-Hopitaux de Paris, University Hospitals of Paris-Saclay, Bicêtre Hospital, Paris, France.; Inserm UMR1184, Immunology of Viral Infections and Autoimmune Diseases, University Paris Saclay, Le Kremlin-Bicêtre, France.
Desbois AC; UPMC Université Paris 06, Inserm UMR S 959, Immunology Immunopathology Immunotherapy (I3), Sorbonne Universités, 75005, Paris, France.; Biotherapy (CIC-BTi) and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Hôpital Pitié-Salpêtrière, AP-HP, 75651, Paris, France.; AP-HP groupe hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology, centre national de référence maladies autoinflammatoires et amylose inflammatoire, centre national de références maladies autoimmunes systémiques rares, 75013, Paris, France.
Galeotti C; Pediatric Rheumatology and CEREMAIA, Bicêtre Hospital APHP, University of Paris Sud Saclay, Le Kremlin-Bicêtre, France.
Gaudric J; Department of Vascular Surgery, Pitié-Salpétrière Hospital, Assistance Publique Hôpitaux de Paris, Sorbonne Université, Paris, France.
Kaplanski G; Internal Medicine and Clinical Immunology Department, Hôpital de la Conception, Aix-Marseille Université, Marseille, France.
Mahr A; Clinic for Rheumatology, Kantonsspital St Gallen, St Gallen, Switzerland.
Noel N; Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne et Immunologie Clinique, CHU Bicêtre, Le Kremlin Bicêtre, France.; INSERM, UMR 1184, Immunologie des Maladies Virales et Autoimmunes, Université Paris Saclay, Le Kremlin Bicêtre, France.; CEA, DSV/iMETI, Division of Immuno-Virology, IDMIT, Fontenay aux Roses, France.
Piram M; Pediatric Rheumatology and CEREMAIA, Bicêtre Hospital APHP, University of Paris Sud Saclay, Le Kremlin-Bicêtre, France.; Pediatric Dermatology, CHU Sainte Justine Research Centre, CHU Sainte Justine, University of Montreal, Montreal, Canada.
Tran TA; Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France.
Wechsler B; UPMC Université Paris 06, Inserm UMR S 959, Immunology Immunopathology Immunotherapy (I3), Sorbonne Universités, 75005, Paris, France.; Biotherapy (CIC-BTi) and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Hôpital Pitié-Salpêtrière, AP-HP, 75651, Paris, France.; AP-HP groupe hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology, centre national de référence maladies autoinflammatoires et amylose inflammatoire, centre national de références maladies autoimmunes systémiques rares, 75013, Paris, France.
Saadoun D; UPMC Université Paris 06, Inserm UMR S 959, Immunology Immunopathology Immunotherapy (I3), Sorbonne Universités, 75005, Paris, France. .; Biotherapy (CIC-BTi) and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Hôpital Pitié-Salpêtrière, AP-HP, 75651, Paris, France. .; AP-HP groupe hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology, centre national de référence maladies autoinflammatoires et amylose inflammatoire, centre national de références maladies autoimmunes systémiques rares, 75013, Paris, France. .
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Corporate Authors :
Collaborators
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 24; Vol. 16 (Suppl 1), pp. 352. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
Autorzy :
Körber L; Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Loschgestr. 15, 91054, Erlangen, Germany.
Schneider H; Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Loschgestr. 15, 91054, Erlangen, Germany.
Fleischer N; FDNA Inc, Boston, MA, USA.
Maier-Wohlfart S; Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Loschgestr. 15, 91054, Erlangen, Germany. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 23; Vol. 16 (1), pp. 98. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.
Autorzy :
Lin HY; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.; Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan.; Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
Chen MR; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.; Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Lee CL; Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan.; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Lin SM; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.; Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Hung CL; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Division of Cardiology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan.
Niu DM; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Chang TM; Department of Pediatric Neurology, Changhua Christian Children's Hospital, Changhua, Taiwan.; School of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chuang CK; Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. .; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan. .
Lin SP; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan. .; Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan. .; Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. .; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan. .; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 23; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Correction to: A Germany-wide survey study on the patient journey of patients with hereditary angioedema.
Autorzy :
Magerl M; Dermatological Allergology, Allergie-Centrum-Charité, Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Luisenstraße 2, 10117, Berlin, Germany.
Gothe H; IGES Institut GmbH, Friedrichstraße 180, 10117, Berlin, Germany. .; Chair for Health Sciences/Public Health, Medical Faculty 'Carl Gustav Carus', Technical University Dresden, Loescherstrasse 18, 01307, Dresden, Germany. .; Institute of Public Health, Medical Decision Making and Health Technology Assessment, Department of Public Health, Health Services Research and Health Technology Assessment, UMIT - University for Health Sciences, Medical Informatics and Technology, Eduard Wallnoefer Zentrum 1, 6060, Hall in Tirol, Austria. .
Krupka S; IGES Institut GmbH, Friedrichstraße 180, 10117, Berlin, Germany.
Lachmann A; Shire Deutschland GmbH, Friedrichstraße 149, 10117, Berlin, Germany.
Ohlmeier C; IGES Institut GmbH, Friedrichstraße 180, 10117, Berlin, Germany.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 22; Vol. 16 (1), pp. 97. Date of Electronic Publication: 2021 Feb 22.
Typ publikacji :
Published Erratum
Tytuł :
"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA.
Autorzy :
Mazzella A; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA. .
Curry M; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.
Belter L; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.
Cruz R; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.
Jarecki J; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 22; Vol. 16 (1), pp. 96. Date of Electronic Publication: 2021 Feb 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey.
Autorzy :
Mendivil J; Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152, Glattpark-Opfikon, Zurich, Switzerland. .
Murphy R; ICON, Gaithersburg, MD, USA.
de la Cruz M; ICON, Gaithersburg, MD, USA.
Janssen E; ICON, Gaithersburg, MD, USA.
Boysen HB; HAE International (HAEi), Horsens, Denmark.
Jain G; Takeda Pharmaceutical Company Limited, Lexington, MA, USA.
Aygören-Pürsün E; Department for Children and Adolescents, Angioedema Centre, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.
Hirji I; Takeda Pharmaceutical Company Limited, Lexington, MA, USA.
Devercelli G; Takeda Pharmaceutical Company Limited, Lexington, MA, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 18; Vol. 16 (1), pp. 94. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study.
Autorzy :
Dreyfus I; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France. .
Maza A; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.
Rodriguez L; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.
Merlos M; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.
Texier H; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.
Rousseau V; Department of Clinical Pharmacology, CIC1436, University Hospital, Toulouse, France.
Sommet A; Department of Clinical Pharmacology, CIC1436, University Hospital, Toulouse, France.
Mazereeuw-Hautier J; Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.; Paul Sabatier University, Toulouse, France.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 18; Vol. 16 (1), pp. 93. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients.
Autorzy :
Deegan P; Lysosomal Disorders Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Box 135, Cambridge, CB2 0QQ, UK. .
Khan A; Department of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Camelo JS Jr; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Batista JL; Sanofi Genzyme, Cambridge, MA, USA.
Weinreb N; Departments of Human Genetics and Medicine (Hematology), University of Miami Miller School of Medicine, Miami, FL, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 18; Vol. 16 (1), pp. 92. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Correction to: Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones.
Autorzy :
Jayachandran M; Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. .; Division of Hematology Research, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. .; Department of Physiology and Biomedical Engineering, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. .
Yuzhakov SV; Division of Hematology Research, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.; Department of Physiology and Biomedical Engineering, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Kumar S; Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Larson NB; Biomedical Statistics and Bioinformatics, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Enders FT; Biomedical Statistics and Bioinformatics, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Milliner DS; Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Rule AD; Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Lieske JC; Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.; Department of Laboratory Medicine and Pathology, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 18; Vol. 16 (1), pp. 91. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Published Erratum
Tytuł :
U-IMD: the first Unified European registry for inherited metabolic diseases.
Autorzy :
Opladen T; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. .
Gleich F; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Kozich V; Department of Pediatrics and Inherited Metabolic Disorders, Charles University - First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.
Martinelli D; U.O.C. di Patologia Metabolica, Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Schaefer F; Division of Pediatric Nephrology, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Heidelberg, Germany.
Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Juliá-Palacios N; Inborn Errors of Metabolism Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, and CIBERER-ISCIII, Barcelona, Spain.
García-Cazorla Á; Inborn Errors of Metabolism Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, and CIBERER-ISCIII, Barcelona, Spain.
Dionisi-Vici C; U.O.C. di Patologia Metabolica, Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Kölker S; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, Centre for Child and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 18; Vol. 16 (1), pp. 95. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
Autorzy :
Vandevelde NM; Department of Quality of Laboratories, Sciensano, Rue Juliette Wytsmanstraat 14, 1050, Brussels, Belgium. .; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium. .
Vermeersch P; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium.
Devreese KMJ; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium.
Vincent MF; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium.; Belgian Fund Rare Diseases and Orphan Drugs, Brussels, Belgium.
Gulbis B; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Clinical Pathology, LHUB-ULB, Université Libre de Bruxelles, Brussels, Belgium.
Eyskens F; Center of Inherited Metabolic Diseases, Antwerp University Hospital, Edegem, Belgium.; Department of Metabolic Disorders in Children, Antwerp University Hospital, Edegem, Belgium.; Observatory of Chronic Diseases, National Institute for Health and Disability Insurance (INAMI-RIZIV), Brussels, Belgium.
Boemer F; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Biochemical Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liège, Belgium.
Gothot A; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Haematology and Immuno-Haematology, CHU Liège, Liège, Belgium.
Van Hoof VO; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Clinical Chemistry, Antwerp University Hospital, Edegem, Belgium.
Bonroy C; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium.
Stepman H; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium.
Martens GA; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; VUB Metabolomics Platform, Vrije Universiteit Brussel, Brussels, Belgium.; Laboratory for Molecular Diagnostics, AZ Delta Roeselare, Roeselare, Belgium.
Bossuyt X; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.
Roosens L; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Laboratory for TDM and Toxicology, University Hospital Antwerp, Edegem, Belgium.
Smet J; Clinical Pathology, LHUB-ULB, Université Libre de Bruxelles, Brussels, Belgium.
Laeremans H; Laboratory of Pediatric Research, Free University of Brussels, Brussels, Belgium.
Weets I; Rare Diseases Working Group, Belgian National Commission on Clinical Pathology, Brussels, Belgium.; Department of Clinical Chemistry and Radio-Immunology, University Hospital Brussels, Brussels, Belgium.
Minon JM; Laboratory and Department of Blood Transfusion, CHR de la Citadelle, Liège, Belgium.
Vernelen K; Department of Quality of Laboratories, Sciensano, Rue Juliette Wytsmanstraat 14, 1050, Brussels, Belgium.
Coucke W; Department of Quality of Laboratories, Sciensano, Rue Juliette Wytsmanstraat 14, 1050, Brussels, Belgium.
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Corporate Authors :
Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 17; Vol. 16 (1), pp. 89. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy).
Autorzy :
Coi A; Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, Pisa, Italy. .
Barsotti S; Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Santoro M; Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, Pisa, Italy.
Almerigogna F; Immunoallergology Unit, , Careggi University Hospital, Florence, Italy.
Bargagli E; Respiratory Diseases and Lung Transplantation, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Siena, Italy.
Caproni M; Rare Dermatological Diseases Unit, USL Toscana Centro, Firenze, Italy.; ERN-SKIN Diseases Centre, Department of Health Sciences, University of Florence, Firenze, Italy.
Emmi G; Department of Experimental and Clinical Medicine, University of Firenze, Firenze, Italy.
Frediani B; Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, 'Le Scotte' Hospital, Siena, Italy.
Guiducci S; Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.
Matucci Cerinic M; Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.
Mosca M; Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Parronchi P; Department of Experimental and Clinical Medicine, University of Firenze, Firenze, Italy.
Prediletto R; Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, Pisa, Italy.; Fondazione Toscana 'Gabriele Monasterio', Pisa, Italy.
Selvi E; Rheumatology Unit, Azienda Ospedaliero Universitaria Senese, Siena, Italy.
Simonini G; Rheumatology Unit, A. Meyer Children's University Hospital, University of Florence, Florence, Italy.
Tavoni AG; Clinical Immunology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bianchi F; Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, Pisa, Italy.; Fondazione Toscana 'Gabriele Monasterio', Pisa, Italy.
Pierini A; Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, Pisa, Italy.; Fondazione Toscana 'Gabriele Monasterio', Pisa, Italy.
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Corporate Authors :
Rare Diseases Working Group
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 17; Vol. 16 (1), pp. 90. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study.
Autorzy :
Lumry WR; AARA Research Center, 10100 N. Central Expressway, Suite 100, Dallas, TX, 75231, USA. .
Zuraw B; Department of Medicine, UC San Diego, La Jolla, CA, USA.
Cicardi M; University of Milan, Milan, Italy.
Craig T; Penn State University College of Medicine, Hershey, PA, USA.
Anderson J; Clinical Research Center of Alabama, Birmingham, AL, USA.
Banerji A; Massachusetts General Hospital, Boston, MA, USA.
Bernstein JA; University of Cincinnati College of Medicine and Bernstein Clinical Research Center, LLC, Cincinnati, OH, USA.
Caballero T; Allergy Department, Hospital La Paz Institute for Health Research (IdiPaz), Biomedical Research Network On Rare Diseases (CIBERER U754), Madrid, Spain.
Farkas H; Hungarian Angioedema Reference Center, 3Rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
Gower RG; Marycliff Clinical Research, Spokane, WA, USA.
Keith PK; McMaster University, Hamilton, ON, USA.
Levy DS; UC Irvine, Orange, CA, USA.
Li HH; Institute for Asthma and Allergy, Chevy Chase, MD, USA.
Magerl M; Department of Dermatology and Allergy, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Manning M; Medical Research of Arizona, Scottsdale, AZ, USA.
Riedl MA; Division of Rheumatology, Allergy and Immunology, University of California, San Diego, La Jolla, CA, USA.
Lawo JP; CSL Behring GmbH, Emil-von-Behring-Strasse 76, Marburg, Germany.
Prusty S; CSL Behring GmbH, Emil-von-Behring-Strasse 76, Marburg, Germany.
Machnig T; CSL Behring GmbH, Emil-von-Behring-Strasse 76, Marburg, Germany.
Longhurst H; University College Hospital, London, UK.; Auckland District Health Board, Auckland, New Zealand.
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Corporate Authors :
on behalf of the COMPACT Investigators
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 15; Vol. 16 (1), pp. 86. Date of Electronic Publication: 2021 Feb 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials.
Autorzy :
Zhang E; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Tian X; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Li R; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Chen C; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Li M; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Ma L; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.; Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmaceutical Science, Peking University, Beijing, China.
Wei R; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.
Zhou Y; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China. .
Cui Y; Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 15; Vol. 16 (1), pp. 87. Date of Electronic Publication: 2021 Feb 15.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
Autorzy :
Pena MJ; Departamento de Biomedicina, Unidade de Bioquímica, Faculdade de Medicina, Universidade do Porto, 4200-319, Porto, Portugal.
Pinto A; Department of Dietetics, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.; Faculty of Health and Human Sciences, University of Plymouth, Plymouth, PL6 8BH, UK.
de Almeida MF; Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal.; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.; UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal.
de Sousa Barbosa C; Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal.; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.
Ramos PC; Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal.; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.
Rocha S; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.
Guimas A; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.
Ribeiro R; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.; UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal.
Martins E; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.; UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal.
Bandeira A; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal.
Dias CC; Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal.; Department of Community Medicine, Information and Health Sciences (MEDCIDS), Faculty of Medicine, University of Porto, 4200-450, Porto, Portugal.
MacDonald A; Department of Dietetics, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
Borges N; Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal.; Faculdade de Ciências da Nutrição e Alimentação, Universidade do Porto, 4150-180, Porto, Portugal.
Rocha JC; Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal. .; Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal. .; Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal. .; Nutrition and Metabolism, Nova Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056, Lisbon, Portugal. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 13; Vol. 16 (1), pp. 84. Date of Electronic Publication: 2021 Feb 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines.
Autorzy :
Lin YL; Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No. 10 Tieyi Road, Yangfangdian Street, Haidian District, Beijing, 100038, China.
Xu DZ; Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No. 10 Tieyi Road, Yangfangdian Street, Haidian District, Beijing, 100038, China.
Li XB; Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No. 10 Tieyi Road, Yangfangdian Street, Haidian District, Beijing, 100038, China.
Yan FC; Department of Pathology, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.
Xu HB; Department of Myxoma, Aero Space Central Hospital, Peking University, Beijing, 100049, China.
Peng Z; Department of General Surgery, Chinese PLA General Hospital, Beijing, 100853, China.
Li Y; Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No. 10 Tieyi Road, Yangfangdian Street, Haidian District, Beijing, 100038, China. .; Department of Pathology, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 13; Vol. 16 (1), pp. 85. Date of Electronic Publication: 2021 Feb 13.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.
Autorzy :
Shim Y; Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, 03080, Seoul, Republic of Korea.
Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Cho TJ; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim SK; Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, 03080, Seoul, Republic of Korea.
Phi JH; Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, 03080, Seoul, Republic of Korea. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 12; Vol. 16 (1), pp. 81. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
Autorzy :
Patterson MC; Mayo Clinic Children's Center, 200 1st St SW, Rochester, MN, 55905, USA. .
Lloyd-Price L; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Guldberg C; Orphazyme A/S, Copenhagen, Denmark.
Doll H; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Burbridge C; Clinical Outcomes Solutions, Folkestone, Kent, UK.
Chladek M; Clinical Outcomes Solutions, Chicago, IL, USA.
íDali C; Orphazyme A/S, Copenhagen, Denmark.
Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany.
Symonds T; Clinical Outcomes Solutions, Folkestone, Kent, UK.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 12; Vol. 16 (1), pp. 79. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers.
Autorzy :
Andrade IGA; Department of Pediatrics, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Dr. Diogo de Faria, 671, São Paulo, SP, CEP 04037002, Brazil. .
Suano-Souza FI; Department of Pediatrics, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Dr. Diogo de Faria, 671, São Paulo, SP, CEP 04037002, Brazil.
Fonseca FLA; Universidade Federal de São Paulo, Campus Diadema, São Paulo, SP, Brazil.
Lago CSA; Department of Pediatrics, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Dr. Diogo de Faria, 671, São Paulo, SP, CEP 04037002, Brazil.
Sarni ROS; Department of Pediatrics, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Dr. Diogo de Faria, 671, São Paulo, SP, CEP 04037002, Brazil.; Department of Pediatrics, Faculdade de Medicina ABC/Centro Universitário Saúde ABC, Santo André, SP, Brazil.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 12; Vol. 16 (1), pp. 83. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Impact of pediatric hypophosphatasia on behavioral health and quality of life.
Autorzy :
Pierpont EI; Department of Pediatrics, University of Minnesota Medical School, 2450 Riverside Avenue South, RPB 550, Minneapolis, MN, 55454, USA. .
Simmons JH; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Spurlock KJ; Department of Pediatrics, University of Minnesota Medical School, 2450 Riverside Avenue South, RPB 550, Minneapolis, MN, 55454, USA.
Shanley R; Biostatistics Core, Masonic Cancer Center, University of Minnesota, Minneapolis, MN, 55455, USA.
Sarafoglou KM; Department of Pediatrics, University of Minnesota Medical School, 2450 Riverside Avenue South, RPB 550, Minneapolis, MN, 55454, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, MN, 55455, USA.
Pokaż więcej
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Feb 12; Vol. 16 (1), pp. 80. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe

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