@article{f22648bf51af4f439c13c38b3dbb01ac,
title = "Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism",
abstract = "Two siblings with Sandhoff's disease manifested clinical and laboratory evidence of significant cardiomyopathy. Postmortem examination of the hearts of both patients revealed anatomic, biochemical and ultrastructural abnormalities resulting from deficient activities of the enzymes hexosaminidase A and B. A study of the biochemical and ultrastructural changes in the hearts revealed the accumulation of the glycosphingolipid globoside in all cardiac tissues. The necropsy findings indicate that Sandhoff's disease should be considered in the differential diagnosis in infants with cardiomyopathy or mitral insufficiency.",
author = "Blieden, {Leonard C.} and Desnick, {Robert J.} and Carter, {John B.} and William Krivit and Moller, {James H.} and Sharp, {Harvey L.}",
note = "Funding Information: From the Departments of Pediatrics, Laboratory Medicine and Pathology and the Dight Institute for Human Genetics, University of Minnesota, Minneapolis, Minn., and the Department of Pathology, United Hospitals-Miller Division, St. Paul,Minn. This research was supported in part bv Grants CA11996. CA07306. CA08832 and AM14470 from the National Institutes of Health, Bethesda, Md., Grant RR-400 from the Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health, Grant 71-778 from the American Heart Association, Grants CRBS 273 and 259 from The National Foundation, The Thomey Lipid Diseases Research Fund, The Beckman Liver Research Fund, and The Dwan Family Fund. Manuscript accepted September 12, 1973. l Phillips Foundation Fellow Address for reprints: James H. Moller, MD, Box 447, University of Minnesota Hospitals, Minneapolis, Minn. 55455.",
year = "1974",
month = jul,
doi = "10.1016/0002-9149(74)90097-6",
language = "אנגלית",
volume = "34",
pages = "83--88",
journal = "American Journal of Cardiology",
issn = "0002-9149",
publisher = "Elsevier Inc.",
number = "1",
}