A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Giese, Anne Katrin ^a   Mascher, Hermann ^b   Grittner, Ulrike ^c   Eichler, Sabrina ^d   Kramp, Guido ^d   Lukas, Jan ^a   Te Vruchte, Danielle ^e   Al Eisa, Nada ^e   Cortina Borja, Mario ^f   Porter, Forbes D ^g   Platt, Frances M ^e   Rolfs, Arndt ^a,d  

^a UNIVERSITY OF ROSTOCK   (Germany)

^b Pharm Analyt Labor GmbH   (Austria)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d CENTOGENE AG   (Germany)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

Author keywords

Biomarker; HPLC MS MS; Niemann Pick type C1 disease; NPC1

Indexed keywords

BIOLOGICAL MARKER; CHOLESTANE 3BETA,5ALPHA,6BETA TRIOL; CHOLESTANE DERIVATIVE; LYSOSPHINGOMYELIN 509; SPHINGOSYLPHOSPHORYLCHOLINE; UNCLASSIFIED DRUG; SPHINGOSINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED CLINICAL TRIAL (TOPIC); CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; FEMALE; HUMAN; LYSOSOME; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; NIEMANN PICK DISEASE; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; VALIDATION STUDY; ANALOGS AND DERIVATIVES; BLOOD; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE C; YOUNG ADULT;

ADOLESCENT; ADULT; BIOMARKERS; CHILD; FEMALE; HUMANS; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE C; SPHINGOSINE; YOUNG ADULT;

EID: 84935000486     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0274-1     Document Type: Article

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