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Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening
Authors:J Gustafsson  L Sisfontes  I Bj?rkhem
Affiliation:1. Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA;;2. ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA;;3. Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA;;4. Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA;;5. Rare Disease Institute, Children’s National, Washington, DC, USA;;5. Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.;6. Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.;1. Department of Pediatrics, Emma Children''s Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands;2. On behalf of United for Metabolic Diseases, the Netherlands;3. Division of Metabolic Disorders, CHOC Children''s Hospital, Orange, CA, USA;4. Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA;5. Seattle Children''s Research Institute, Seattle, WA, USA;6. Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, the Netherlands;7. Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada;8. Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School, Hannover, Germany;9. Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK;10. Centre Inherited Metabolic Disease, Department of Paediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark;11. Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands;12. Department of Paediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands;13. Children''s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada;14. Department of Pediatrics, Children''s Hospital of Eastern Ontario, Ottawa, Ontario, Canada;15. Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA;p. Department of Pediatrics, Duke University, Durham, NC, USA;q. Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA;r. Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands;1. McGill University Health Centre, 1001 Décarie Blvd Block E, EM02230, Montreal, QC H4A3J1, Canada;2. Department of Neurology, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN 55455, USA,;3. Department of Pediatrics, University of Nebraska Medical Center, 985456 Nebraska Medical Center — MMI 3062, Omaha, NE 68198-5456, USA;4. Hugo W. Moser Research Institute at Kennedy Krieger, 707 N. Broadway, Baltimore, MD 21205, USA;5. Carver College of Medicine, Department of Ophthalmology and Visual Sciences, University of Iowa, Stephen A. Wynn Institute for Vision Research, 200 Hawkins Drive, Iowa City, IA 52242, USA;6. Institute of Genetic Medicine and Department of Neurology, Johns Hopkins University School of Medicine, CMSC1004B, 600 N Wolfe Street, Baltimore, MD 21287, USA;7. Department of Molecular and Human Genetics, Baylor College of Medicine, Duncan Neurological Research Institute, DNRI-1050, Houston, TX 77030, USA;8. Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198, USA;9. Department of Biochemistry and Molecular Biology, University of Southern California, 1975 Zonal Ave, Los Angeles, CA 90033, USA;10. Global Foundation for Peroxisomal Disorders, 5147 S. Harvard Avenue, Suite 181, Tulsa, OK 74135, USA
Abstract:
Keywords:
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