{"title":"The Squeezed Heart-A Case Report","authors":"Arnab Ghosh Chaudhury, P. Bhat, C. Manjunath","doi":"10.31579/2690-4861/216","DOIUrl":null,"url":null,"abstract":"Pompe’s disease is an autosomal recessive disorder caused by inherited deficiency of α-1,4-glucosidase (acid maltase), a lysosomal enzyme. Patients usually die in the first year of life from cardio-respiratory failure due to massive left ventricular hypertrophy. We report a case of 3-month-old boy presented with fatal infantile onset Pompe’s disease.","PeriodicalId":93010,"journal":{"name":"International journal of clinical case reports and reviews : open access","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of clinical case reports and reviews : open access","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31579/2690-4861/216","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Pompe’s disease is an autosomal recessive disorder caused by inherited deficiency of α-1,4-glucosidase (acid maltase), a lysosomal enzyme. Patients usually die in the first year of life from cardio-respiratory failure due to massive left ventricular hypertrophy. We report a case of 3-month-old boy presented with fatal infantile onset Pompe’s disease.
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