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The Gangliosidoses
Gangliosides are complex glycolipids containing ceramide linked to a variable number of monosaccharide and sialic acid residues, which confer a net negative charge on the molecule. They areExpand
The Gangliosidoses
Gangliosides are complex glycolipids containing ceramide linked to a variable number of monosaccharide and sialic acid residues, which confer a net negative charge on the molecule. They areExpand
Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). A review.
Abstract The clinical, genetic, morphological, and biochemical aspects of spongydegeneration of the central nervous system in infancy, including our own seven cases, are reviewed. Although theExpand
Progression of amaurotic family idiocy as reflected by serum and cerebrospinal fluid changes.
Abstract Serial biochemical studies were performed in nineteen cases of amaurotic family idiocy (Tay-Sachs disease), one case of Niemann-Pick's disease (NPD) and one case of diffuse sclerosis, atExpand
Cerebrospinal Fluid Enzymes in Central Nervous System Lipidoses∗ (with particular reference to Amaurotic Family Idiocy)
Summary 1) Simultaneous determinations of glutamic oxalacetic transaminase (GOT), aldolase and lactic dehydrogenase (LD) were estimated of sera and cerebrospinal fluid (CSF) derived from 9 cases ofExpand
Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.
Abstract 1. 1. For carrier detection in the general population, a simple, rapid quantitative acrylamide gel electrophoretic technique has been developed which employs a fluorogenic (umbelliferyl)Expand
HISTOCHEMICAL STUDIES ON THE PATHOGENESIS OF IDIOPATHIC NON‐ARTERIOSCLEROTIC CEREBRAL CALCIFICATION
In vivo and in vitro metabolism of insulin-I 131 and glucagon-I 131 in normal and cortisone-treated rabbits.
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