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An In-vitro Screening Method for Mucolipidosis II/III
专利权人:
发明人:
SHETH JAYESH JAYANTILAL
申请号:
IN3455/MUM/2014
公开号:
IN2014MU03455A
申请日:
2014.10.31
申请国别(地区):
IN
年份:
2016
代理人:
摘要:
An In-vitro Screening Method for Mucolipidosis II/III The present invention relates to an in-vitro screening method for ML II/III. The present invention particularly discloses confirmed diagnostic strategy for ML II/III among other autosomal recessive lysosomal storage disorders. The screening method for diagnosis of ML II/III comprises sodium acetate buffer containing sodium chloride and sodium pyrophosphate (Reagent 1), 4-nitrocatechole sulphate dipotassium salt (Reagent 2) and sodium hydroxide (Reagent 3). It provides simple and inexpensive method for diagnosis. The present invention offers several advantages including simple inexpensive method of diagnosis with minimum sample volume and no instrumentation requirement, easy sample handling, mass first line screening with nearly 100 % sensitivity and specificity.
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