Aspartylglycosaminuria: a review

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lysosomal storage disease 4 endocrinologydiseases
osteoporosis 1 endocrinologydiseases

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lysosomal storage disease 265 12/2016Publication date (collection): /2016AbstractAspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease , is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population.
lysosomal storage disease 3981 the realization that enrichment of AGU had occurred in the Finnish population.AGU is the most common lysosomal storage disease caused by a disorder in degradation of glycoproteins. Glycoproteins commonly contain carbohydrate moieties,
lysosomal storage disease 17819 was observed in Aga (-/-) mice [[44]].Diagnosis and diagnostic methodsVacuolated cells, as in other lysosomal storage disease s, with expanded lysosomes can be detected in all AGU patient tissues in microscopic examinations. Biochemical
lysosomal storage disease 19906 blood and dilated, large lysosomes in tissue cells of a patient may be the first finding to indicate a lysosomal storage disease . A careful examination of the histology specimens may indicate whether the accumulating compound might
osteoporosis 9110 loss of gingical overgrowtsThick and broad/full lipsLoose skinMuscle atrophy and hypotonyBursitis, osteoporosis , orofacialAttenuation in EEG45+DroolingMicrocephaliaAngiofibromas and rosacea increseContractures in

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