Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists

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Term Occurence Count Dictionary
mucopolysaccharidosis 1 endocrinologydiseases
Fabry disease 1 endocrinologydiseases
lysosomal storage disease 1 endocrinologydiseases

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Fabry disease 8317 thickening in MPS is less important than in other storage diseases, such as Pompe disease or Anderson- Fabry disease . Thus, it is important to regularly measure wall thickness, left ventricular dimensions, and cardiac
lysosomal storage disease 3539 disease phenotypes have not been recognized yet by other specialists. The mainstay of MPS, as for all lysosomal storage disease s, is “early diagnosis-early management”, and a correct interpretation of clinical and laboratory
mucopolysaccharidosis 4021 been proposed (Table 1, Figs. 1 and 2) [[2]].Table 1Ten-point checklist for cardiologists to suspect mucopolysaccharidosis 1. Family history: consanguinity and/or X-linked inheritance (female to male; no male to male transmission)Yes/No2.

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