Gal, A E
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. [electronic resource]
- The New England journal of medicine Sep 1975
- 632-6 p. digital
Publication Type: Journal Article
ISSN: 0028-4793
Standard No.: 10.1056/NEJM197509252931304 doi
Subjects--Topical Terms: Amniotic Fluid--cytology Cells, Cultured Cerebrosides--metabolism Choline--analogs & derivatives Clinical Enzyme Tests--methods Fibroblasts--enzymology Glucosylceramidase--analysis Heterozygote Homozygote Humans Hydrogen-Ion Concentration Hydrolysis Leukocytes--enzymology Liver--enzymology Niemann-Pick Diseases--diagnosis Nitrophenols Phosphoric Diester Hydrolases--analysis Phosphorylcholine--analogs & derivatives Proteins Skin--cytology Sphingomyelin Phosphodiesterase--analysis Sphingomyelins--metabolism