Results 121 to 130 of about 3,138 (148)
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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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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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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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Enzymological approaches to the lipidoses.
Annals of clinical and laboratory science, 1977There are now ten known heritable disorders of lipid metabolism for which the nature of the underlying enzymological defect is conclusively established. In addition to devising procedures for successful enzyme replacement therapy, much current work deals with the development of convenient, effective methods for the rapid diagnosis of patients with ...
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Alterations of astrocytic organelles in various lipidoses and allied diseases
Acta Neuropathologica, 1971Bruno W Volk, Masazumi Adachi
exaly
The Biochemistry of the Lipidoses
Proceedings of the Association of Clinical Biochemists, 1965openaire +1 more source
A histochemical study of various forms of cerebral lipidoses
Journal of Clinical Pathology, 1962M Wolman
exaly

