Identification of heterozygous carriers of lipid storage diseases
- 1 October 1971
- journal article
- Published by Elsevier in The American Journal of Medicine
- Vol. 51 (4) , 423-431
- https://doi.org/10.1016/0002-9343(71)90249-x
Abstract
No abstract availableThis publication has 23 references indexed in Scilit:
- Krabbe's Globoid Cell Leukodystrophy: Deficiency of Galactocerebrosidase in Serum, Leukocytes, and FibroblastsScience, 1971
- A pedigree study of metachromatic leukodystrophyNeurology, 1970
- Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick diseaseBiochemical and Biophysical Research Communications, 1969
- Metachromatic Leukodystrophy: Diagnosis with Samples of Venous BloodScience, 1968
- Intrauterine diagnosis and management of genetic defectsAmerican Journal of Obstetrics and Gynecology, 1967
- Enzymatic Defect in Fabry's DiseaseNew England Journal of Medicine, 1967
- Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous BloodScience, 1967
- Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.Journal of Clinical Investigation, 1966
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965
- CEREBROSIDE SYNTHESIS IN GAUCHER'S DISEASE *Journal of Clinical Investigation, 1960