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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Autor: Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Fenaille F; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France., Harroche A; Hôpital Necker, Haemophilia Care Centre, 75015 Paris, France., Vuillaumier-Barrot S; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM U1149, Université de Paris, 75018 Paris, France., Porterfield M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Wagner S; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Vergnes-Boiteux MC; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France., Cholet S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France., Dalton S; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Dell A; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK., Dupré T; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France., Fiore M; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France; Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, 33604 Pessac, France., Haslam SM; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK., Huguenin Y; Centre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, CHU de Bordeaux, 33076 Bordeaux, France., Kumagai T; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Kulik M; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., McGoogan K; Medical Director of Hepatology Nemours Children's Specialty Care, Jacksonville, FL 32207, USA., Michot C; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015, Paris, France., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Pascreau T; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France., Borgel D; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France; HITh, UMR_S 1176, INSERM, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France., Raymond K; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA., Warad D; Division of Pediatric Hematology Oncology, Mayo Clinic, Rochester, MN 55905, USA., Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Steet R; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Tiemeyer M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Seta N; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France., Bruneel A; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM UMR1193, Université Paris-Saclay, 92290 Châtenay-Malabry, France., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1040-1052. Date of Electronic Publication: 2021 May 07.

Epidemiological characteristics and therapeutic management of patients with chronic heart failure who use smartphones: Potential impact of a dedicated smartphone application (report from the OFICSel study).

Autor: Pezel T; Cardiology Department, Centre Hospitalo-Universitaire Lariboisière, AP-HP, 75010 Paris, France. Electronic address: theo.pezel@live.fr., Berthelot E; Cardiology Department, Hôpital Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France., Gauthier J; Cardiologist, 13200 Arles, France., Chong-Nguyen C; Cardiology Department, Hôpital Bichat, AP-HP, 75018 Paris, France., Iliou MC; Cardiology Department, Hôpital Corentin-Celton, AP-HP, 92130 Issy-les-Moulineaux, France., Juillière Y; Cardiology Department, Hôpital Brabois, 54500 Vandoeuvre-lès-Nancy, France., Galinier MC; Cardiology Department, University Hospital Toulouse-Rangueil, 31059 Toulouse, France., De Groote P; Cardiology Department, CHU de Lille, Inserm U1167, Institut Pasteur de Lille, Université de Lille, 59000 Lille, France., Beauvais F; Cardiology Department, Centre Hospitalo-Universitaire Lariboisière, AP-HP, 75010 Paris, France., Bauer F; Cardiology Department, CHU de Rouen, 76000 Rouen, France., Vergeylen U; Cardiology Department, Hôpital Montfermeil, 93370 Montfermeil, France., Gellen B; Cardiology Department, ELSAN, Polyclinique de Poitiers, 86000 Poitiers, France., Raphael P; Cardiology Department, Clinique Saint-Gatien, 37540 Saint-Cyr-sur-Loire, France., Bezard M; Cardiology Department, Centre de Référence Amyloses Cardiaques et des Cardiomyopathies, CHU Henri Mondor, AP-HP, 94010 Creteil, France., Ricci JE; Cardiology Department, CHU de Nimes, 30029 Nimes, France., Boiteux MC; Cardiology Department, CHU Gabriel-Montpied, 63000 Clermont-Ferrand, France., Bonnefous L; Public Health Department, CHU Henri Mondor, AP-HP, 94010 Creteil, France., Bodez D; Cardiology Department, Centre de Référence Amyloses Cardiaques et des Cardiomyopathies, CHU Henri Mondor, AP-HP, 94010 Creteil, France., Audureau E; CEPIA, CHU Henri Mondor, AP-HP, 94010 Creteil, France., Damy T; Cardiology Department, Centre de Référence Amyloses Cardiaques et des Cardiomyopathies, CHU Henri Mondor, AP-HP, 94010 Creteil, France.

Publikováno v: Archives of cardiovascular diseases [Arch Cardiovasc Dis] 2021 Jan; Vol. 114 (1), pp. 51-58. Date of Electronic Publication: 2020 Aug 28.

Effectiveness of combined eccentric and concentric exercise over traditional cardiac exercise rehabilitation programme in patients with chronic heart failure: protocol for a randomised controlled study.

Autor: Plaquevent-Hostache G; Cardiology and Vascular Diseases, Medical Clinic of Cardio-Pneumology of Durtol, Durtol, France., Touron J; UMR1019 INRA-UCA, ASMS team, CRNH Auvergne, INRA Centre Auvergne Rhone Alpes, Clermont Ferrand, France., Costes F; UMR1019 INRA-UCA, ASMS team, CRNH Auvergne, INRA Centre Auvergne Rhone Alpes, Clermont Ferrand, France.; Department of Sport Medicine and Functional Explorations, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Perrault H; Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada., Clerfond G; Department of Cardiology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Cuenin C; Cardiology and Vascular Diseases, Medical Clinic of Cardio-Pneumology of Durtol, Durtol, France., Moisa A; Cardiology and Vascular Diseases, Medical Clinic of Cardio-Pneumology of Durtol, Durtol, France., Pereira B; Delegation to Clinical Research and Innovation, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Boiteux MC; Cardiology and Vascular Diseases, Medical Clinic of Cardio-Pneumology of Durtol, Durtol, France., Eschalier R; Department of Cardiology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Richard R; UMR1019 INRA-UCA, ASMS team, CRNH Auvergne, INRA Centre Auvergne Rhone Alpes, Clermont Ferrand, France ruddy.richard@uca.fr.; Department of Sport Medicine and Functional Explorations, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

Publikováno v: BMJ open [BMJ Open] 2019 Sep 26; Vol. 9 (9), pp. e028749. Date of Electronic Publication: 2019 Sep 26.