AIMC Topic: Mucopolysaccharidoses

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Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Molecular and cellular biochemistry Mar 21, 2019
This study was aimed to construct classification and regression tree (CART) model of glycosaminoglycans (GAGs) for the differential diagnosis of Mucopolysaccharidoses (MPS). Two-dimensional electrophoresis and liquid chromatography-tandem mass spectr...
Humans Machine Learning Female Adult Male Infant Adolescent Child, Preschool Child Chromatography, Liquid Diagnosis, Differential Mutation Tandem Mass Spectrometry Glycosaminoglycans Acetylglucosaminidase Hydrolases Mucopolysaccharidoses Chondroitinsulfatases Iduronidase
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Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Molecular genetics and metabolism Dec 22, 2016
UNLABELLED: Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently r...
Humans Female Infant, Newborn Young Adult Adult Sensitivity and Specificity Male Infant Adolescent Child, Preschool Child Age Factors Chromatography, Liquid Tandem Mass Spectrometry Heparitin Sulfate Glycosaminoglycans Mucolipidoses Dried Blood Spot Testing Dermatan Sulfate Keratan Sulfate Mucopolysaccharidoses
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