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An Enzymological Approach to the Lipidoses
Enzyme, 2017The abnormal enzymology of Gaucher’s disease, metachromatic leukodystrophy, Fabry’s disease and Tay-Sachs disease is considered in light of recent experiments with highly purified enzymes from human sources. Structural, catalytic, and immunological properties of the enzymes involved are compared with their normal counterparts. The use of purified human
J F, Tallman, P G, Pentchev, R O, Brady
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Journal of the American Oil Chemists' Society, 1967
AbstractFormal genetic analyses of family data in cases of errors of lipid metabolism are able to distin‐guish monogenic vs. multigenic and nongenetic disorders. These data, together with population data, provide criteria for the homogeneity of cases which can be useful in the interpretation of biochemical findings. The peculiarly elevated incidence of
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AbstractFormal genetic analyses of family data in cases of errors of lipid metabolism are able to distin‐guish monogenic vs. multigenic and nongenetic disorders. These data, together with population data, provide criteria for the homogeneity of cases which can be useful in the interpretation of biochemical findings. The peculiarly elevated incidence of
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Lipidomics in diagnosis of lipidoses
2008A review is presented of the major clinical features of a number of glycolipidoses including Fabry, Gaucher, Tay-Sachs, metachromatic leukodystrophy as well as CeroidLipofucinosis and Sjogren-Larsson syndrome. The possibilities offered by lipidomics for diagnosis and follow-up after enzyme replacement therapy are presented from a practical perspective.
C, Wolf, P J, Quinn
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Pediatric Clinics of North America, 1976
The disorders presented consist of those clinical entities in which a reasonably well defined lipid storage material accumulated within nervous tissue. Many other progressive, degenerative disorders are suspected of being storage disorders, but their chemical pathology remains unclear.
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The disorders presented consist of those clinical entities in which a reasonably well defined lipid storage material accumulated within nervous tissue. Many other progressive, degenerative disorders are suspected of being storage disorders, but their chemical pathology remains unclear.
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2019
Abstract Chapter 83 discusses lipidoses. The lipidoses are genetic diseases caused by enzyme deficiencies, which result in the cellular accumulation of lipids. These abnormal cells infiltrate tissues, including bone marrow, resulting in their dysfunction.
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Abstract Chapter 83 discusses lipidoses. The lipidoses are genetic diseases caused by enzyme deficiencies, which result in the cellular accumulation of lipids. These abnormal cells infiltrate tissues, including bone marrow, resulting in their dysfunction.
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Fabry’s disease and the lipidoses
1998Abstract Originally described as a dermatologic curiosity by Fabry (1898), and independently by Anderson in the same year (1898), Fabry’s disease is now recognized as an inborn error of metabolism resulting from the defective activity of the lysosomal enzyme, cx-galactosidase A.
Robert J Desnick, Christine M Eng
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1967
The lipidoses, as covered by this book,are inborn errors of metabolism, although some of them may be rather strongly subjected to modification by exogenous influences. Their exact classification depends largely on clinical, morphological, and particularly biochemical criteria.
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The lipidoses, as covered by this book,are inborn errors of metabolism, although some of them may be rather strongly subjected to modification by exogenous influences. Their exact classification depends largely on clinical, morphological, and particularly biochemical criteria.
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Histochemical diagnosis of lipidoses.
Acta Universitatis Carolinae. Medica. Monographia, 1978Contemporary possibilities for the histochemical diagnosis of lipidoses are demonstrated in examples of phospholipidoses, Gaucher's disease, Fabry's disease, sulphatidosis, gangliosidosis and neuronal ceroid-lipofuscinoses.
M, Elleder, Z, Lojda
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