Download Current Trends in Sphingolipidoses and Allied Disorders by P. Hösli (auth.), Bruno W. Volk, Larry Schneck (eds.) PDF

By P. Hösli (auth.), Bruno W. Volk, Larry Schneck (eds.)

The current quantity comprises the clinical contributions to the 5th overseas Symposium on "Current developments in Sphingo­ lipidoses and Allied problems" less than the auspices of the Isaac Albert examine Institute of the Kingsbrook Jewish clinical middle, the dept of Pathology, Downstate scientific middle, country Uni­ versity of latest York, Brooklyn, ny, and the nationwide Tay-Sachs and Allied illnesses organization, Inc., long island. A overview of the 4 prior Symposia indicates the rise in scope of the medical exploration during this quickly increasing box. the 1st assembly, held in 1958, was once dedicated to the dialogue al­ such a lot solely of Tay-Sachs ailment. the vast majority of the paintings emanated from neighborhood laboratories. The contributors at present Symposium got here from many different household and overseas learn in­ stitutions. The scope of the papers awarded at those conferences and the curiosity proven within the Symposium demonstrates the signifi­ cance hooked up by means of the clinical group to the issues of those hereditary ailments. the explanations for this are obvious, whilst one considers the contributions in the course of contemporary years to our easy comprehend­ ledge through lipid and enzyme chemistry, genetics, and neuropathology. partially due to the hereditary nature of those ailments any new discovery during this box has basic which means and allows wary generalization well past its scientific significance.

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Extra resources for Current Trends in Sphingolipidoses and Allied Disorders

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Lowden, J. , Conen, P. , Rudd, N. and Doran, T. A. Prenatal Diagnosis of ~l-Gangliosidosis. New Engl. J. , 288, 225, 1973. 17. Montgomery, R. Glycoproteins. In, The Carbohydrates lIB, Ed. Pigman, W. and Horton, D. Academic Press, New York, 627709, 1970. 18. Ng Ying Kin, N. M. K. and Wolfe, L. S. Oligosaccharides accumulating in the Liver from a Patient with ~-Gangliosidosis Variant O. Biochem. Biophys. Res. , 59, 837, 1974. 19. Ng Ying Kin, N. M. K. and Wolfe, L. S. The Structures of Oligo saccharides and Glycopeptides in the Urine of GMl and GM2-Gangliosidosis.

And Dawson, G. Glycopeptide Storage in Fibroblasts from Patients with Inborn Errors of Glycoprotein and Glycosphingolipid Catabolism. Biochem. Biophys. Res. , 63, 807, 1975. 41. Tsay, G. , Dawson, G. and Matalon, R. Glycopeptide Storage in Skin Fibroblasts Cultures from a Patient with a-Mannosidase Deficiency. J. Clin. , 56, 711, 1975. 42. Tsay, G. , Dawson, G. and Yu-Teh-Li. Structures of the Glycopeptide Storage Material in ~l-Gangliosidosis. Biochim. Biophys. Acta, 385, 305, 1975. 43. Winzler, R.

18. Ng Ying Kin, N. M. K. and Wolfe, L. S. Oligosaccharides accumulating in the Liver from a Patient with ~-Gangliosidosis Variant O. Biochem. Biophys. Res. , 59, 837, 1974. 19. Ng Ying Kin, N. M. K. and Wolfe, L. S. The Structures of Oligo saccharides and Glycopeptides in the Urine of GMl and GM2-Gangliosidosis. Fed. , 34, 634, 1975. 20. Ng Ying Kin, N. M. , and Wolfe, L. S. Characterization of Oligosaccharides and Glycopeptides Excreted in the Urine of Gwn-Gangliosidosis Patients. Biochem. Biophys.

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