Mucopolysaccharidoses: early diagnostic signs in infants and children

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Term Occurence Count Dictionary
Sanfilippo syndrome 2 endocrinologydiseases
Sly syndrome 1 endocrinologydiseases
gangliosidosis 2 endocrinologydiseases
mucopolysaccharidosis 1 endocrinologydiseases

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Sanfilippo syndrome 17774 mostly neurological and cognitive involvementMucopolysaccharidoses type III (MPS III, also known as Sanfilippo syndrome ; Fig. 7) has a prevalent neurological presentation. MPS III is a lysosomal storage disorder caused
Sanfilippo syndrome 18739 Note the different face expression, showing progression of the neurological impairmentPatients with Sanfilippo syndrome show progressive cognitive impairment in the second and third years of life. In contrast to the majority
Sly syndrome 15806 the attenuated phenotype [[8]].Mucopolysaccharidosis type VII (MPS VII; OMIM #253220), also known as Sly syndrome , is an ultra-rare MPS characterized by deficient activity of β-glucuronidase, with lysosomal storage
gangliosidosis 22070 oligosaccharide excretion as in GM1 patients. MPS IVB is indeed allelic to the various forms of GM1- gangliosidosis , but lacks the psychomotor deterioration seen in GM1 gangliosidosis [[28], [29]].Fig. 8MPS IVA. a 4 year-old
gangliosidosis 22138 allelic to the various forms of GM1-gangliosidosis, but lacks the psychomotor deterioration seen in GM1 gangliosidosis [[28], [29]].Fig. 8MPS IVA. a 4 year-old patient with b antero-posterior and c lateral x-rays showing
mucopolysaccharidosis 4891 recognizable in MPS II and MPS III.Table 1Age of onset of the main signs and symptoms in different mucopolysaccharidosis (MPS) typesSign/ symptomAge of onset 0-24 monthsAge of onset >2 yrsMPSHydrops foetalis [[10], [19]]BirthI,

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