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

0028-4793

10.1056/NEJM197509252931304 doi


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