N Engl J Med 2015 Jul;373(1):48-59
The Department of Internal Medicine, Center of Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam (J.G.L., F.P.J.K., E.J.G.S., F.W.M.R., J.H.P.W.), and the Department of Dermatology, Maastricht University Medical Center, Maastricht (J.F.) - both in the Netherlands; the Departments of Genetics and Genomic Sciences (M.B., H.N., R.J.D.) and Dermatology (M.L.), Icahn School of Medicine at Mount Sinai, New York; the Departments of Preventive Medicine and Community Health, and Internal Medicine and the Institute for Translational Sciences, University of Texas Medical Branch, Galveston (K.E.A.); the Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC (H.L.B.); Royal Gwent Hospital, Newport (A.V.A., C.E.), the Centre for Dermatology, University of Manchester, Salford Royal Hospital, Manchester (L.E.R.), and the Ludwig Institute for Cancer Research, Nuffield Department of Medicine, University of Oxford, Oxford (C.R.G.) - all in the United Kingdom; the Department of Medicine, University of California, San Francisco, San Francisco (D.M.B.); the Department of Medicine, University of Alabama, Birmingham (J.B.); the Department of Dermatology, Heinrich Heine University, Duesseldorf, Germany (N.J.N., J.F.); the Department of Internal Medicine, University of Utah, Salt Lake City (C.P., J.D.P.); the Department of Dermatology, Henry Ford Hospital, Detroit (H.W.L., I.H.); Hôpital Louis-Mourier, Hôpitaux Universitaire Paris Nord Val de Seine, Assistance Publique-Hôpitaux de Paris, INSERM Unité 1149, Université Paris Diderot, Colombes, France (J.-C.D.); the Departments of Medicine and Dermatology, University Hospital of Helsinki, Helsinki (R.K.); and the Department of Dermatology, Beaumont Hospital, Dublin (G.M.M.).
J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.
Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Orphanet J Rare Dis 2012 Sep 26;7:73. Epub 2012 Sep 26.
Department of Neurology & Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
J Inherit Metab Dis 2012 May 15;35(3):419-24. Epub 2011 Sep 15.
Centre for Lysosomal and Metabolic diseases, Departments of Internal Medicine and Pediatrics, Erasmus MC, Rotterdam, The Netherlands.