Development of a bile acid–based newborn screen for Niemann-Pick disease type C-Reference-Cited by-同舟云学术

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

Published:2016-05-04 Issue:337 Volume:8 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Jiang Xuntian¹,Sidhu Rohini¹,Mydock-McGrane Laurel²,Hsu Fong-Fu³,Covey Douglas F.²,Scherrer David E.¹,Earley Brian¹,Gale Sarah E.¹,Farhat Nicole Y.⁴,Porter Forbes D.⁴,Dietzen Dennis J.⁵,Orsini Joseph J.⁶,Berry-Kravis Elizabeth⁷,Zhang Xiaokui⁸,Reunert Janice⁹,Marquardt Thorsten⁹,Runz Heiko¹⁰¹¹,Giugliani Roberto¹²,Schaffer Jean E.¹,Ory Daniel S.¹

Affiliation:

1. Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

2. Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.

3. Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

4. Section 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. Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.

6. New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.

7. Rush University Medical Center, Chicago, IL 60612, USA.

8. Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.

9. Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.

10. Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

11. Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.

12. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.

Abstract

A newborn screen for Niemann-Pick disease type C was developed on the basis of discovery of a bile acid marker.

Funder

National Niemann-Pick Disease Foundation

Dana's Angels Research Trust

Ara Parseghian Medical Research Foundation

Support of Accelerated Research for NPC Disease

Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Office of Rare Diseases

NIH

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference42 articles.

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4. Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

5. Consequences of NPC1 and NPC2 loss of function in mammalian neurons

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