In Utero Diagnosis of Niemann-Pick Disease

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1971 Sep 1

PMID 4328491

Citations 11

Authors

C J Epstein

R O Brady

E L Schneider

R M Bradley

D Shapiro

Affiliations

Soon will be listed here.

Citing Articles

Benefits from unearthing "a biochemical Rosetta Stone".

Brady R J Biol Chem. 2010; 285(53):41216-21.

PMID: 21030589 PMC: 3009847. DOI: 10.1074/jbc.X110.197954.

Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.

Donnai P, Donnai D, Harris R, Stephens R, Young E, Campbell S J Med Genet. 1981; 18(5):359-61.

PMID: 7328615 PMC: 1048757. DOI: 10.1136/jmg.18.5.359.

Prenatal detection of genetic disorders.

Epstein C, Schneider E, Conte F, Friedman S Am J Hum Genet. 1972; 24(2):214-26.

PMID: 5016512 PMC: 1762207.

The prenatal diagnosis of metabolic disorders.

Harper P J R Coll Physicians Lond. 1973; 7(3):251-8.

PMID: 4633369 PMC: 5368801.

Inborn errors of metabolism: principles and their applications.

Pinksy L Can Med Assoc J. 1972; 106(6):677 passim.

PMID: 4551928 PMC: 1940485.

References

Kanfer J, Young O, Shapiro D, Brady R . The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. J Biol Chem. 1966; 241(5):1081-4. View

Brady R, Kanfer J, MOCK M, Fredrickson D . The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A. 1966; 55(2):366-9. PMC: 224150. DOI: 10.1073/pnas.55.2.366. View

Brady R, GAL A, Bradley R, MARTENSSON E . The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. J Biol Chem. 1967; 242(5):1021-6. View

Fujimoto W, Seegmiller J, UHLENDORF B, JACOBSON C . Biochemical diagnosis of an X-linked disease in utero. Lancet. 1968; 2(7566):511-2. DOI: 10.1016/s0140-6736(68)90671-5. View

Sloan H, UHLENDORF B, Kanfer J, Brady R, Fredrickson D . Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun. 1969; 34(5):582-8. DOI: 10.1016/0006-291x(69)90777-3. View