Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

Molecular Genetics and Metabolism - Tập 93 - Trang 112-128 - 2008
William R. Wilcox1,2, João Paulo Oliveira3, Robert J. Hopkin4, Alberto Ortiz5, Maryam Banikazemi, Ulla Feldt-Rasmussen6, Katherine Sims7, Stephen Waldek8, Gregory M. Pastores9, Philip Lee10, Christine M. Eng11, Laszlo Marodi12, Kevin E. Stanford13, Frank Breunig14, Christoph Wanner15, David G. Warnock16, Roberta M. Lemay17, Dominique P. Germain18,19
1Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd. SSB, Los Angeles, CA 90048, USA
2Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA.
3Medical Genetics, Hospital São João, Porto, Portugal
4Cincinnati Children's Hospital, Cincinnati, OH, USA
5Fundación Jiménez Díaz, Madrid, Spain
6Department of Medical Endocrinology, Rigshospitalet, University of Copenhagen, Denmark
7Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
8Hope Hospital, Salford, Manchester, United Kingdom
9New York University, New York, NY, USA
10National Hospital for Neurology & Neurosurgery, London, United Kingdom
11Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
12Department of Infectious and Pediatric Immunology, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary
13Department of Psychiatry, University of Cincinnati College of Medicine, Cincinnati, OH, USA
14Department of Medicine, Division of Nephrology, University Hospital, Würzburg, Germany
15University Hospital, Department of Medicine, Würzburg, Germany
16University of Alabama at Birmingham, Birmingham, AL, USA
17Biomedical Operations, Genzyme Corporation, USA
18Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif. Assistance Publique – Hôpitaux de Paris, Paris, France
19University of Versailles - St Quentin en Yvelines, France

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Molecular Genetics and Metabolism

Tập 93

112-128

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