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Research ArticleNIEMANN-PICK TYPE C DISEASE
Development of a bile acid–based newborn screen for Niemann-Pick disease type C
- Xuntian Jiang1,
- Rohini Sidhu1,
- Laurel Mydock-McGrane2,
- Fong-Fu Hsu3,
- Douglas F. Covey2,
- David E. Scherrer1,
- Brian Earley1,
- Sarah E. Gale1,
- Nicole Y. Farhat4,
- Forbes D. Porter4,
- Dennis J. Dietzen5,
- Joseph J. Orsini6,
- Elizabeth Berry-Kravis7,
- Xiaokui Zhang8,
- Janice Reunert9,
- Thorsten Marquardt9,
- Heiko Runz10,11,
- Roberto Giugliani12,
- Jean E. Schaffer1 and
- Daniel S. Ory1,*
- 1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 3Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 4Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
- 5Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
- 6New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.
- 7Rush University Medical Center, Chicago, IL 60612, USA.
- 8Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
- 9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
- 10Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
- 11Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.
- 12Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.
- ↵*Corresponding author. Email: dory{at}wustl.edu
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Science Translational Medicine 04 May 2016:
Vol. 8, Issue 337, pp. 337ra63
DOI: 10.1126/scitranslmed.aaf2326
Vol. 8, Issue 337, pp. 337ra63
DOI: 10.1126/scitranslmed.aaf2326
Xuntian Jiang
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Rohini Sidhu
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Laurel Mydock-McGrane
2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Fong-Fu Hsu
3Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Douglas F. Covey
2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
David E. Scherrer
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Brian Earley
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Sarah E. Gale
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nicole Y. Farhat
4Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Forbes D. Porter
4Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Dennis J. Dietzen
5Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Joseph J. Orsini
6New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.
Elizabeth Berry-Kravis
7Rush University Medical Center, Chicago, IL 60612, USA.
Xiaokui Zhang
8Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
Janice Reunert
9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
Thorsten Marquardt
9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
Heiko Runz
10Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
11Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.
Roberto Giugliani
12Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.
Jean E. Schaffer
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Daniel S. Ory
1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
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