Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay

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• 作者：Khaled El Moustafa ; MD^a ; Serap Sivri ; MD^b (Professor) ; Sevilay Karahan ; PhD^c ; Turgay Coşkun ; MD^b (Professor) ; Filiz Akbıyık ; MD ; PhD^a (Professor) ; İncilay Lay ; MD ; PhD^a ; ^d ; ^{lincilay@gmail.com} ; ^{isinici@hacettepe.edu.tr} (Associate Prof.)
• 关键词：Mucopolysaccharidoses ; Screening MPSs ; Urinary glycosaminoglycan assay ; 1 ; 9-Dimethylene blue ; Validation ; Reference intervals
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：72-78
• 全文大小：802 K
• 卷排序：464

文摘

Comprehensive analytical and diagnostic efficiency of GAG analysis were determined. Age-specific reference ranges for Turkish population were developed. Freezing urine samples for transfer is unnecessary, by extensive stability analysis. Accurate clinical performance of GAG analysis based on age-dependent ROC analysis GAG analysis is a valuable screening method in populations with a high rate of MPSs.