Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 92-99

  Shimada, Tsutomu ^a   Kelly, Joan ^b   LaMarr, William A ^b   van Vlies, Naomi ^c   Yasuda, Eriko ^a   Mason, Robert W ^a   Mackenzie, William ^a   Kubaski, Francyne ^a   Giugliani, Roberto ^d   Chinen, Yasutsugu ^e   Yamaguchi, Seiji ^f   Suzuki, Yasuyuki ^g   Orii, Kenji E ^h   Fukao, Toshiyuki ^h   Orii, Tadao ^h   Tomatsu, Shunji ^a,h  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b Agilent Technologies Inc ^*  (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^e UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

^f SHIMANE UNIVERSITY   (Japan)

^g GIFU UNIVERSITY   (Japan)

^h GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Automated high throughput mass spectrometry; Biomarker; Heparan sulfate; Mucopolysaccharidoses; Newborn screening

Indexed keywords

DISACCHARIDE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

ADOLESCENT; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CHILD; CHROMATOGRAPHY; CLINICAL EVALUATION; CONTROLLED STUDY; CORRELATIONAL STUDY; DRIED BLOOD SPOT TESTING; ENZYME REPLACEMENT; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH THROUGHPUT MASS SPECTROMETRY; HIGH THROUGHPUT SCREENING; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INFANT; INTERMETHOD COMPARISON; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETER; MOLECULAR DIAGNOSIS; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; NEWBORN; NEWBORN SCREENING; REPRODUCIBILITY; ROBOTICS; SANFILIPPO SYNDROME; SENSITIVITY ANALYSIS; SENSITIVITY AND SPECIFICITY; SOLID PHASE EXTRACTION; TANDEM MASS SPECTROMETRY; ADULT; BLOOD; CASE CONTROL STUDY; DIAGNOSTIC USE; MASS SPECTROMETRY; MUCOPOLYSACCHARIDOSES; PRESCHOOL CHILD; PROCEDURES; STANDARDS; YOUNG ADULT;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; DRIED BLOOD SPOT TESTING; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT; INFANT, NEWBORN; MASS SPECTROMETRY; MUCOPOLYSACCHARIDOSES; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 84908554927     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.008     Document Type: Article

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