AIMC Topic: Mucopolysaccharidoses

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Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records.

Scientific reports Aug 6, 2025
Rare diseases, such as Mucopolysaccharidosis (MPS), present significant challenges to the healthcare system. Some of the most critical challenges are the delay and the lack of accurate disease diagnosis. Early diagnosis of MPS is crucial, as it has t...
Humans Adolescent Child, Preschool Infant Early Diagnosis Mucopolysaccharidoses Bayes Theorem Child Female Male Algorithms Electronic Health Records Young Adult Retrospective Studies Machine Learning
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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...
Acetylglucosaminidase Hydrolases Glycosaminoglycans Iduronidase Chondroitinsulfatases Mucopolysaccharidoses Diagnosis, Differential Chromatography, Liquid Tandem Mass Spectrometry Mutation Child, Preschool Child Adolescent Adult Female Infant Humans Machine Learning Male
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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...
Dried Blood Spot Testing Mucolipidoses Keratan Sulfate Dermatan Sulfate Heparitin Sulfate Glycosaminoglycans Infant Tandem Mass Spectrometry Young Adult Adolescent Sensitivity and Specificity Adult Age Factors Mucopolysaccharidoses Female Male Humans Chromatography, Liquid Infant, Newborn Child, Preschool Child
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