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The Gangliosidoses (Paperback, Softcover reprint of the original 1st ed. 1975)
Loot Price: R1,536
Discovery Miles 15 360
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The Gangliosidoses (Paperback, Softcover reprint of the original 1st ed. 1975)
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The history of so-called storage diseases goes back to the end of
the 19th and to the beginning of the 20th century when Fabry, Tay,
Sachs, Gaucher, Niemann, Hunter, and Hurler first described the
disorders which up to now are called by their eponym. The clinical
descriptions soon were followed by pathologic studies, and within a
short time, the hereditary characters of these rare afflictions
came to be recognized. Although sporadic reports during the early
part of this century dealt with biochemical analysis of the
"stored" materials in these disorders, it was actually in the late
1930s that the abnormal deposits started to attract the increasing
attention of chemists. S. H. Thannhauser brought the broad concept
of lipidoses as a group of related disorders to the attention of
the medical profession for the first time, and in 1939 Klenk
observed that the brain of a patient with Tay-Sachs disease
contained greatly increased amounts of a glycolipid for which he
proposed the name "ganglioside. " 20 years has thrown new light on
these afflic Work carried out in the past tions and has pinpointed
the enzymatic and lipid abnormalities associated with the various
"storage" diseases. Moreover, electron microscopic studies have
permitted detailed investigations of the fine structure of the
various organs of afflicted patients."
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