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. 1974 Sep;26(5):563–577.

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.

L Pinsky, J Miller, B Shanfield, G Watters, L S Wolfe
PMCID: PMC1762717  PMID: 4420522

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Derry D. M., Fawcett J. S., Andermann F., Wolfe L. S. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types. Neurology. 1968 Apr;18(4):340–348. doi: 10.1212/wnl.18.4.340. [DOI] [PubMed] [Google Scholar]
  2. Fluharty A. L., Lassila E. L., Porter M. T., Kihara H. The electrophoretic separation of human -galactosidases on cellulose acetate. Biochem Med. 1971 Apr;5(2):158–164. doi: 10.1016/0006-2944(71)90083-4. [DOI] [PubMed] [Google Scholar]
  3. Ho M. W., O'Brien J. S. Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay. Clin Chim Acta. 1971 May;32(3):443–450. doi: 10.1016/0009-8981(71)90446-3. [DOI] [PubMed] [Google Scholar]
  4. Ho M. W., O'Brien J. S. Stimulation of acid beta-galactosidase activity by chloride ions. Clin Chim Acta. 1970 Nov;30(2):531–534. doi: 10.1016/0009-8981(70)90147-6. [DOI] [PubMed] [Google Scholar]
  5. Hultberg B., Ockerman P. A. Properties of 4-methylumbelliferyl-beta-galactosidase activities in human liver. Scand J Clin Lab Invest. 1969 May;23(3):213–217. doi: 10.3109/00365516909077651. [DOI] [PubMed] [Google Scholar]
  6. Kaback M. M., Leonard C. O., Parmley T. H. Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Pediatr Res. 1971 Aug;5(8):366–371. doi: 10.1203/00006450-197108000-00005. [DOI] [PubMed] [Google Scholar]
  7. Kaback M. M., Sloan H. R., Sonneborn M., Herndon R. M., Percy A. K. Gm-gangliosidosis type I: in utero detection and fetal manifestations. J Pediatr. 1973 Jun;82(6):1037–1041. doi: 10.1016/s0022-3476(73)80438-x. [DOI] [PubMed] [Google Scholar]
  8. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  9. Milunsky A., Spielvogel C., Kanfer J. N. Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II. 1972 Nov 22;11(22):1101–1107. doi: 10.1016/0024-3205(72)90219-6. [DOI] [PubMed] [Google Scholar]
  10. O'Brien J. S., Ho M. W., Veath M. L., Wilson J. F., Myers G., Opitz J. M., ZuRhein G. M., Spranger J. W., Hartmann H. A., Haneberg B. Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies. Clin Genet. 1972;3(6):411–434. doi: 10.1111/j.1399-0004.1972.tb01476.x. [DOI] [PubMed] [Google Scholar]
  11. Ockerman P. A., Hultberg B. Fractionation of j-methylumbelliferyl-beta-galactosidase activities in liver in gargoylism. Scand J Clin Lab Invest. 1968;22(3):199–202. doi: 10.3109/00365516809166488. [DOI] [PubMed] [Google Scholar]
  12. Pinsky L., Powell E., Callahan J. GM1-gangliosidosis types 1 and 2: enzymatic differences in cultured fibroblasts. Nature. 1970 Dec 12;228(5276):1093–1095. doi: 10.1038/2281093b0. [DOI] [PubMed] [Google Scholar]
  13. Shanfield B., Pinsky L. Effect of population density on the specific activity of various acid hydrolases in human skin fibroblast monolayers. Can J Genet Cytol. 1972 Dec;15(4):871–874. doi: 10.1139/g72-107. [DOI] [PubMed] [Google Scholar]
  14. Singer H. S., Nankervis G. A., Schafer I. A. Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis. Pediatrics. 1972 Mar;49(3):352–361. [PubMed] [Google Scholar]
  15. Singer H. S., Schafer I. A. Clinical and enzymatic variations in G M1 generalized gangliosidosis. Am J Hum Genet. 1972 Jul;24(4):454–463. [PMC free article] [PubMed] [Google Scholar]
  16. Sloan H. R., Uhlendorf B. W., Jacobson C. B., Fredrickson D. S. Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis. Pediatr Res. 1969 Nov;3(6):532–537. doi: 10.1203/00006450-196911000-00002. [DOI] [PubMed] [Google Scholar]
  17. Suzuki Y., Crocker A. C., Suzuki K. G-M1-gangliosidosis. Correlation of clinical and biochemical data. Arch Neurol. 1971 Jan;24(1):58–64. doi: 10.1001/archneur.1971.00480310086008. [DOI] [PubMed] [Google Scholar]
  18. Young E., Ellis R. B., Patrick A. D., Singer H. S., Schafer I. A. Leukocyte -galactosidase activity in GM 1 -gangliosidosis. Pediatrics. 1972 Sep;50(3):502–503. [PubMed] [Google Scholar]

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