{"title":"挤压心脏——一例报告","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":"{\"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}","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}
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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