The cherry red spot-myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1978.tb02061.x/fullpdf
Reference13 articles.
1. Mucolipidosis I: increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts;Cantz;Biochem. Biophys. Res. Commun.,1977
2. Structures and immunochemical properties of oligosaccharides isolated from pig submaxillary mucins;Carlson;J. biol. Chem.,1968
3. Macular cherry red, myoclonic epilepsy and neurovascular storage in a 17-year-old girl;Goldstein;Trans. Amer. neurol. Ass.,1974
4. A case of juvenile lipidosis: the significance of electron microscopic and biochemical observations on a cerebral biopsy;Gonatas;J. Neuropath. exp. Neurol.,1963
5. Oligosaccharides in urine of patients with glycoprotein storage diseases. 1. Rapid detection by thin-layer chromatography;Humbel;Clin. chim. Acta.,1975
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