Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

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Term Occurence Count Dictionary
gangliosidosis 3 endocrinologydiseases
mucolipidosis 1 endocrinologydiseases
mucopolysaccharidosis 1 endocrinologydiseases
obesity 1 endocrinologydiseases

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gangliosidosis 25554 [69]].Mutations in the GLB1 gene are responsible for two allelic disorders: the neurodegenerative GM1 gangliosidosis (non-MPS) disorder (MIM 230500) and the rare MPS IVB (Morquio B) syndrome (MIM 253010) [[70]]. In contrast
gangliosidosis 25683 disorder (MIM 230500) and the rare MPS IVB (Morquio B) syndrome (MIM 253010) [[70]]. In contrast to GM1 gangliosidosis , patients with Morquio B retain neurological functions, but develop generalized skeletal dysplasia,
gangliosidosis 26067 obscured by a late-onset mental regression and by the presence of keratan sulphaturia in juvenile GM1 gangliosidosis forms.The GLB1 mutations underlying Morquio B syndrome affect the catabolism of KS but have little effect
mucolipidosis 10336 two enzymatic assays. Differential laboratory diagnosis includes multiple sulphatase deficiency and mucolipidosis II and III, in which GAGs accumulate because of their primitive defect involving some of the enzymes
mucopolysaccharidosis 3189 involved in the pathway are shown in black. Defective enzyme activity leading to the different types of mucopolysaccharidosis (MPS) is indicated in blue. Note that the degradation pathway of chondroitin sulphates, being similar
obesity 6705 haemoglobin, as well as several diseases other than MPS (leukaemia, rheumatic arthritis, diabetes, obesity , etc.), may also lead to an abnormally high GAG excretion in the urine [[7], [8]].Moreover, assays using

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