合計: 1 |
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PMID (PMCID) | ||
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27142047 |
OTHER | |
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. | ||
Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. JIMD Rep. 2017;31:79-83. |
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Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. |