Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?

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osteoporosis 1 endocrinologydiseases
lysosomal storage disease 3 endocrinologydiseases

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lysosomal storage disease 571 4/2017Publication date (collection): 4/2017AbstractGaucher’s disease (GD) is the most frequently inherited lysosomal storage disease , presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the
lysosomal storage disease 1829 system.1. IntroductionGaucher’s disease (GD) is the most common autosomal, recessively inherited lysosomal storage disease (LSD). The disorder is highly variable in symptoms, severity and age of onset. The symptoms affect multiple
lysosomal storage disease 24678 Muscular Atrophy [[91]], Fanconi Anemia [[92]] and Long Q-T Syndrome [[93]], among others. Several lysosomal storage disease s have also been modeled in iPSc, including Gaucher’s disease [[94]].6. Induced Human Pluripotent Stem
osteoporosis 2154 symptoms. The systemic symptoms include hepato and splenomegaly, anemia, pancytopenia, osteopenia, osteoporosis and bone pain due to infarction or fractures. The neurological symptoms include spasticity, seizures,

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