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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Germain, Dominique P; Brand, Eva; Burlina, Alessandro; Cecchi, Franco; Garman, Scott C; Kempf, Judy; Laney, Dawn A; Linhart, Ales; Maródi, László; Nicholls, Kathy; Ortiz, Alberto; Pieruzzi, Federico; Shankar, Suma P; Waldek, Stephen; Wanner, Christoph; Jovanovic, Ana.
Afiliación
  • Germain DP; Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France.
  • Brand E; Department of Nephrology, Hypertension and Rheumatology, University Hospital Münster, Münster, Germany.
  • Burlina A; Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
  • Cecchi F; Referral Center for Cardiomyopathies, Cardiothoraco-vascular Department, Careggi University Hospital, Florence, Italy.
  • Garman SC; Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA, USA.
  • Kempf J; Formerly Sanofi Genzyme, Cambridge, MA, USA.
  • Laney DA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Linhart A; Second Department of Medicine - Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Maródi L; Department of Infectious and Pediatric Immunology, University of Debrecen, Debrecen, Hungary.
  • Nicholls K; Department of Nephrology, Royal Melbourne Hospital, and Department of Medicine, University of Melbourne, Parkville, VIC, Australia.
  • Ortiz A; Unidad de Dialisis, IIS-Fundación Jiménez Díaz, School of Medicine, UAM, IRSIN and REDINREN, Madrid, Spain.
  • Pieruzzi F; Department of Medicine and Surgery, Nephrology Unit, University of Milano-Bicocca, Monza, Italy.
  • Shankar SP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Waldek S; Department of Pediatrics, Division of Genomic Medicine, UC Davis School of Medicine, Sacramento, CA, USA.
  • Wanner C; University of Sunderland, Sunderland, UK.
  • Jovanovic A; Renal Division, University Hospital of Würzburg, Würzburg, Germany.
Mol Genet Genomic Med ; 2018 Apr 12.
Article en En | MEDLINE | ID: mdl-29649853
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Clinical_trials Idioma: En Revista: Mol Genet Genomic Med Año: 2018 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Clinical_trials Idioma: En Revista: Mol Genet Genomic Med Año: 2018 Tipo del documento: Article País de afiliación: Francia