TY  - GEN
AU  - Gal,A E
AU  - Brady,R O
AU  - Hibbert,S R
AU  - Pentchev,P G
TI  - A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease
SN  - 0028-4793
PY  - 1975///1021
KW  - Amniotic Fluid
KW  - cytology
KW  - Cells, Cultured
KW  - Cerebrosides
KW  - metabolism
KW  - Choline
KW  - analogs & derivatives
KW  - Clinical Enzyme Tests
KW  - methods
KW  - Fibroblasts
KW  - enzymology
KW  - Glucosylceramidase
KW  - analysis
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Hydrogen-Ion Concentration
KW  - Hydrolysis
KW  - Leukocytes
KW  - Liver
KW  - Niemann-Pick Diseases
KW  - diagnosis
KW  - Nitrophenols
KW  - Phosphoric Diester Hydrolases
KW  - Phosphorylcholine
KW  - Proteins
KW  - Skin
KW  - Sphingomyelin Phosphodiesterase
KW  - Sphingomyelins
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1056/NEJM197509252931304
ER  -