Results 121 to 130 of about 3,138 (148)
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The Cerebral Lipidoses

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.
openaire   +2 more sources

Fabry’s disease and the lipidoses

1998
Abstract 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
openaire   +1 more source

Histochemical diagnosis of lipidoses.

Acta Universitatis Carolinae. Medica. Monographia, 1978
Contemporary 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
openaire   +1 more source

Enzymological approaches to the lipidoses.

Annals of clinical and laboratory science, 1977
There 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 ...
openaire   +1 more source

Distribution of Lesions in Myenteric Plexus and Gastrointestinal Mucosa in Lipidoses and other Neurologic Disorders of Children

American Journal of Clinical Pathology, 1968
Benjamin H Landing   +2 more
exaly  

Alterations of astrocytic organelles in various lipidoses and allied diseases

Acta Neuropathologica, 1971
Bruno W Volk, Masazumi Adachi
exaly  

The Biochemistry of the Lipidoses

Proceedings of the Association of Clinical Biochemists, 1965
openaire   +1 more source

A histochemical study of various forms of cerebral lipidoses

Journal of Clinical Pathology, 1962
M Wolman
exaly  

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