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

Science Translational Medicine

Volumn 8, Issue 337, 2016, Pages

  Jiang, Xuntian ^a   Sidhu, Rohini ^a   Mydock McGrane, Laurel ^a   Hsu, Fong Fu ^a   Covey, Douglas F ^a   Scherrer, David E ^a   Earley, Brian ^a   Gale, Sarah E ^a   Farhat, Nicole Y ^b   Porter, Forbes D ^b   Dietzen, Dennis J ^a   Orsini, Joseph J ^c   Berry Kravis, Elizabeth ^d   Zhang, Xiaokui ^e   Reunert, Janice ^f   Marquardt, Thorsten ^f   Runz, Heiko ^g,h   Giugliani, Roberto ⁱ   Schaffer, Jean E ^a   Ory, Daniel S ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c WADSWORTH CENTER   (United States)

^d RUSH UNIVERSITY MEDICAL CENTER   (United States)

^e GENZYME CORPORATION   (United States)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h MERCK RESEARCH LABORATORIES   (United States)

ⁱ HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA, 5ALPHA, 6BETA TRIHYDROXYCHOLANIC ACID; BILE ACID; BIOLOGICAL MARKER; CHOLANIC ACID DERIVATIVE; CHOLESTANE 3BETA, 5ALPHA, 6BETA TRIOL; GLYCINE DERIVATIVE; OXYSTEROL; UNCLASSIFIED DRUG;

ARTICLE; BILE ACID BLOOD LEVEL; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DRIED BLOOD SPOT TESTING; FEMALE; HIGH THROUGHPUT SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; METABOLOMICS; NEWBORN; NEWBORN SCREENING; NIEMANN PICK DISEASE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; BLOOD;

BILE ACIDS AND SALTS; BIOMARKERS; DRIED BLOOD SPOT TESTING; HUMANS; INFANT, NEWBORN; NIEMANN-PICK DISEASE, TYPE C; SENSITIVITY AND SPECIFICITY;

EID: 84969983713     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aaf2326     Document Type: Article

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