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标题：Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
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作者：Tatiana Marusic ; Mojca Zerjav Tansek ; Andreja Sirca Campa 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：24
页码：1-4
DOI：10.1016/j.ymgmr.2020.100628
出版社：Elsevier B.V.
摘要：Now 15-year-old girl with glycogen storage disease (GSD) type IIIa (OMIM 232400 ) developed severe left ventricular obstructive hypertrophy and hepatomegaly while treated with frequent cornstarch meals. Subsequently, she was introduced the ketogenic diet; continuous ketosis has been maintained for over the last 4 years. After the introduction of ketogenic diet, a normalization of the cardiomyopathy and improvement of hepatopathy was achieved, with enhanced overall quality of life.
关键词：Glycogen storage disease ; GSD type IIIa ; Cardiomyopathy ; Ketogenic diet ; Case report ; GSD Glycogen Storage Disease ; KD Ketogenic diet ; KB Ketone bodies ; LVMI Left Ventricular Mass Index ; MAD Modified Atkins Diet ; MRI Magnetic Resonance Imaging ; CK Creatine kinase ; proBNP pro-Brain-Type Natriuretic Peptide