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J Cardiol Cases
April 2023
Department of Cardiology, Heart and Lung Center, Helsinki University and Helsinki University Central Hospital, Helsinki, Finland.
Unlabelled: Mucopolysaccharidoses (MPSs) are inherited metabolic diseases characterized by the deficiency of lysosomal enzymes and the accumulation of glycosaminoglycans in various organs, including the heart. In particular, aortic valve disease causes high morbidity and mortality rates, and sometimes requires surgical aortic valve replacement (SAVR) at a young age. Although transcatheter aortic valve replacement (TAVR) for severe aortic stenosis (AS) in surgical high-risk patients is a well-established treatment, there are few reports of TAVR in MPS and medium- and long-term outcomes are not known.
View Article and Find Full Text PDFMuscle Nerve
January 2016
Neurological Institute, University Hospitals - Case Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106-5098, USA.
Introduction: Hunter syndrome (mucopolysaccharidosis II) is a rare genetic disorder. Carpal tunnel syndrome (CTS) is a common finding in these patients.
Methods: We report the ultrasound findings in a 40-year-old Hunter syndrome patient with severe CTS.
Intern Med
January 2007
Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka.
We describe a 40-year-old male patient with Hunter's syndrome. His main manifestations were ascites and esophageal varices due to cirrhotic liver. We obtained hepatic biopsy samples and examined them.
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