Research ArticleNIEMANN-PICK TYPE C DISEASE

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

See allHide authors and affiliations

Science Translational Medicine  04 May 2016:
Vol. 8, Issue 337, pp. 337ra63
DOI: 10.1126/scitranslmed.aaf2326

Article Information

vol. 8 no. 337 337ra63

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication January 11, 2016
  • Accepted for publication April 11, 2016
  • .

Author Information

  1. Xuntian Jiang1,
  2. Rohini Sidhu1,
  3. Laurel Mydock-McGrane2,
  4. Fong-Fu Hsu3,
  5. Douglas F. Covey2,
  6. David E. Scherrer1,
  7. Brian Earley1,
  8. Sarah E. Gale1,
  9. Nicole Y. Farhat4,
  10. Forbes D. Porter4,
  11. Dennis J. Dietzen5,
  12. Joseph J. Orsini6,
  13. Elizabeth Berry-Kravis7,
  14. Xiaokui Zhang8,
  15. Janice Reunert9,
  16. Thorsten Marquardt9,
  17. Heiko Runz10,11,
  18. Roberto Giugliani12,
  19. Jean E. Schaffer1 and
  20. Daniel S. Ory1,*
  1. 1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  2. 2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  3. 3Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  4. 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.
  5. 5Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  6. 6New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.
  7. 7Rush University Medical Center, Chicago, IL 60612, USA.
  8. 8Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
  9. 9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
  10. 10Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  11. 11Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.
  12. 12Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.
  1. *Corresponding author. Email: dory{at}wustl.edu

Altmetric

Article usage

Article usage: May 2016 to October 2019

AbstractFullPdf
May 20163863220363
Jun 20163732061
Jul 20162321928
Aug 20161511025
Sep 20162012941
Oct 2016173515
Nov 20162081423
Dec 20161971621
Jan 201798710
Feb 2017891214
Mar 20171101011
Apr 20171091113
May 2017106312
Jun 20171011317
Jul 20178268
Aug 201798105
Sep 2017101510
Oct 2017102613
Nov 201710795
Dec 20177398
Jan 20185666
Feb 2018761819
Mar 2018862125
Apr 2018773257
May 2018773445
Jun 2018783621
Jul 2018856650
Aug 2018016718
Sep 2018022540
Oct 2018014827
Nov 2018025631
Dec 2018021219
Jan 2019517317
Feb 20191820128
Mar 201978927
Apr 201933618
May 2019124028
Jun 2019103718
Jul 201933438
Aug 201952210
Sep 201934122
Oct 20198158

Navigate This Article