[61] Enzymatic diagnosis of sphingolipidoses
- 1 January 1987
- book chapter
- Published by Elsevier
- Vol. 138, 727-762
- https://doi.org/10.1016/0076-6879(87)38063-2
Abstract
No abstract availableThis publication has 100 references indexed in Scilit:
- Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophyThe Journal of Pediatrics, 1976
- I-Cell disease: Activities of lysosomal enzymes toward natural and synthetic substratesLife Sciences, 1976
- Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblastsThe Journal of Pediatrics, 1976
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976
- Possible misdiagnosis of Krabbe diseaseThe Journal of Pediatrics, 1976
- Genetic heterogeneity in GM1-gangliosidosisNature, 1975
- Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidaseBiochemical and Biophysical Research Communications, 1972
- Urinary test for identification of Tay-Sachs genotypesThe Journal of Pediatrics, 1972
- Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytesThe Journal of Pediatrics, 1971
- Evidence for the genetic block in metachromatic leucodystrophy (ML)Biochemical and Biophysical Research Communications, 1965