Skip to main content
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1968 Apr;59(4):1097–1102. doi: 10.1073/pnas.59.4.1097

Lipid abnormalities in a variant of the Hurler syndrome.

R Matalon, J A Cifonelli, H Zellweger, A Dormanfman
PMCID: PMC224837  PMID: 4173633

Full text

PDF
1097

Selected References

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

  1. AMINOFF D. Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids. Biochem J. 1961 Nov;81:384–392. doi: 10.1042/bj0810384. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. BARKER S. A., STACEY M. The pathology and chemistry of a case of gargoylism. Appendix. Chemical analysis of tissue polysaccharides. J Clin Pathol. 1956 Nov;9(4):314–315. [PubMed] [Google Scholar]
  3. BOAS N. F. Method for the determination of hexosamines in tissues. J Biol Chem. 1953 Oct;204(2):553–563. [PubMed] [Google Scholar]
  4. BRANTE G. Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest. 1952;4(1):43–46. doi: 10.3109/00365515209060631. [DOI] [PubMed] [Google Scholar]
  5. Borri P. F., Hooghwinkel G. J., Edgar G. W. Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism. J Neurochem. 1966 Nov;13(11):1249–1256. doi: 10.1111/j.1471-4159.1966.tb04284.x. [DOI] [PubMed] [Google Scholar]
  6. Brown D. H. TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE. Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783–790. doi: 10.1073/pnas.43.9.783. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. DORFMAN A. METABOLISM OF ACID MUCOPOLYSACCHARIDES. Biophys J. 1964 Jan;4:SUPPL155–SUPPL165. doi: 10.1016/s0006-3495(64)86935-6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Dorfman A., Lorincz A. E. OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME. Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443–446. doi: 10.1073/pnas.43.6.443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. GONATAS N. K., GONATAS J. ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM. J Neuropathol Exp Neurol. 1965 Apr;24:318–340. doi: 10.1097/00005072-196504000-00011. [DOI] [PubMed] [Google Scholar]
  10. HAUST M. D., LANDING B. H. Histochemical studies in Hurler's disease: a new method for localization of acid mucopolysaccharide, and an analysis of lead acetate "fixation". J Histochem Cytochem. 1961 Jan;9:79–86. doi: 10.1177/9.1.79. [DOI] [PubMed] [Google Scholar]
  11. LANDING B. H., SILVERMAN F. N., CRAIG J. M., JACOBY M. D., LAHEY M. E., CHADWICK D. L. FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT". Am J Dis Child. 1964 Nov;108:503–522. [PubMed] [Google Scholar]
  12. LEDEEN R., SALSMAN K., GONATAS J., TAGHAVY A. STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I. J Neuropathol Exp Neurol. 1965 Apr;24:341–351. doi: 10.1097/00005072-196504000-00012. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Leroy J. G., Demars R. I. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science. 1967 Aug 18;157(3790):804–806. doi: 10.1126/science.157.3790.804. [DOI] [PubMed] [Google Scholar]
  15. MATHEWS M. B., DORFMAN A. The molecular weight and viscosity of chondroitinsulfuric acid. Arch Biochem Biophys. 1953 Jan;42(1):41–53. doi: 10.1016/0003-9861(53)90235-5. [DOI] [PubMed] [Google Scholar]
  16. MEYER K., GRUMBACH M. M., LINKER A., HOFFMAN P. Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome). Proc Soc Exp Biol Med. 1958 Feb;97(2):275–279. doi: 10.3181/00379727-97-23714. [DOI] [PubMed] [Google Scholar]
  17. Matalon R., Dorfman A. Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture. Proc Natl Acad Sci U S A. 1966 Oct;56(4):1310–1316. doi: 10.1073/pnas.56.4.1310. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. O'BRIEN J. S., STERN M. B., LANDING B. H., O'BRIEN J. K., DONNELL G. N. GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM? Am J Dis Child. 1965 Apr;109:338–346. [PubMed] [Google Scholar]
  19. Omura T., Siekevitz P., Palade G. E. Turnover of constituents of the endoplasmic reticulum membranes of rat hepatocytes. J Biol Chem. 1967 May 25;242(10):2389–2396. [PubMed] [Google Scholar]
  20. PERLMAN R. L., TELSER A., DORFMAN A. THE BIOSYNTHESIS OF CHONDROITIN SULFATE BY A CELL-FREE PREPARATION. J Biol Chem. 1964 Nov;239:3623–3629. [PubMed] [Google Scholar]
  21. PETERSON E. A., GREENBERG D. M. Characteristics of the amino acid-incorporating system of liver homogenates. J Biol Chem. 1952 Jan;194(1):359–375. [PubMed] [Google Scholar]
  22. SCHILLER S., SLOVER G. A., DORFMAN A. A method for the separation of acid mucopolysaccharides: its application to the isolation of heparin from the skin of rats. J Biol Chem. 1961 Apr;236:983–987. [PubMed] [Google Scholar]
  23. SUZUKI K. A SIMPLE AND ACCURATE MICROMETHOD FOR QUANTITATIVE DETERMINATION OF GANGLIOSIDE PATTERNS. Life Sci. 1964 Nov;3:1227–1233. doi: 10.1016/0024-3205(64)90040-2. [DOI] [PubMed] [Google Scholar]
  24. SVENNERHOLM L. CHROMATOGRAPHIC SEPARATION OF HUMAN BRAIN GANGLIOSIDES. J Neurochem. 1963 Sep;10:613–623. doi: 10.1111/j.1471-4159.1963.tb08933.x. [DOI] [PubMed] [Google Scholar]
  25. SVENNERHOLM L. Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method. Biochim Biophys Acta. 1957 Jun;24(3):604–611. doi: 10.1016/0006-3002(57)90254-8. [DOI] [PubMed] [Google Scholar]
  26. SVENNERHOLM L., RAAL A. Composition of brain ganglio-sides. Biochim Biophys Acta. 1961 Oct 28;53:422–424. doi: 10.1016/0006-3002(61)90460-7. [DOI] [PubMed] [Google Scholar]
  27. Schafer I. A., Sullivan J. C., Svejcar J., Kofoed J., Robertson W. van B. Vitamin C-induced increase of dermatan sulfate in cultured Hurler's fibroblasts. Science. 1966 Aug 26;153(3739):1008–1010. doi: 10.1126/science.153.3739.1008. [DOI] [PubMed] [Google Scholar]
  28. Spence M. W., Wolfe L. S. The effect of cations on the extractability of gangliosides from brain. J Neurochem. 1967 May;14(5):585–590. doi: 10.1111/j.1471-4159.1967.tb09559.x. [DOI] [PubMed] [Google Scholar]
  29. WARREN L. The thiobarbituric acid assay of sialic acids. J Biol Chem. 1959 Aug;234(8):1971–1975. [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES