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Science 8 August 1969:
Vol. 165. no. 3893, pp. 611 - 613
DOI: 10.1126/science.165.3893.611
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Articles

Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme

Mae Wan Ho 1 and John S. O'Brien 1

1 Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037

A marked deficiency of a specific thermolabile beta-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Whole Mount Enzyme Histochemistry as a Rapid Screen at Necropsy for Expression of {beta}-Galactosidase (LacZ)-Bearing Transgenes: Considerations for Separating Specific LacZ Activity from Nonspecific (Endogenous) Galactosidase Activity.
B. Bolon (2008)
Toxicol Pathol 36, 265-276
   Abstract »    Full Text »    PDF »
Impaired Elastogenesis in Hurler Disease : Dermatan Sulfate Accumulation Linked to Deficiency in Elastin-Binding Protein and Elastic Fiber Assembly.
A. Hinek and S. E. Wilson (2000)
Am. J. Pathol. 156, 925-938
   Abstract »    Full Text »    PDF »
Localized {beta}-Galactosidase Deficiency: Occurrence in Cerebellar Ataxia With Myoclonus Epilepsy and Macular Cherry-Red Spot-- A New Variant of GM1-Gangliosidosis?.
A. Yamamoto, S. Adachi, S. Kawamura, M. Takahashi, T. Kitani, T. Ohtori, Y. Shinji, and M. Nishikawa (1974)
Arch Intern Med 134, 627-634
   Abstract »    PDF »
Juvenile GM1 Gangliosidosis: Occurrence With Absence of Two {beta}-Galactosidase Components.
J. A. Lowden, J. W. Callahan, M. G. Norman, M. Thain, and J. S. Prichard (1974)
Arch Neurol 31, 200-203
   Abstract »    PDF »
Multiple Sulfatase Deficiencies in Cultured Skin Fibroblasts: Occurrence in Patients With a Variant Form of Metachromatic Leukodystrophy.
Y. Eto, U. N. Wiesmann, J. H. Carson, and N. N. Herschkowitz (1974)
Arch Neurol 30, 153-156
   Abstract »    PDF »
Mucopolysaccharidosis: Secondarily Induced Abnormal Distribution of Lysosomal Isoenzymes.
J. A. Kint, G. Dacremont, D. Carton, E. Orye, and C. Hooft (1973)
Science 181, 352-354
   Abstract »    PDF »
Deficiency of agr-L-Fucosidase.
V. Patel, I. Watanabe, and W. Zeman (1972)
Science 176, 426-427
   Abstract »    PDF »
Macular Cherry-Red Spot, Corneal Clouding, and {beta}-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease.
M. F. Goldberg, E. Cotlier, L. G. Fichenscher, K. Kenyon, R. Enat, and S. A. Borowsky (1971)
Arch Intern Med 128, 387-398
   Abstract »    PDF »
Juvenile GM2 Gangliosidosis: Biochemical and Ultrastructural Studies on a New Variant of Tay-Sachs Disease.
J. H. Menkes, J. S. O'Brien, S. Okada, J. Grippo, J. M. Andrews, and P. A. Cancilla (1971)
Arch Neurol 25, 14-22
   Abstract »    PDF »
GM1-Gangliosidosis: Correlation of Clinical and Biochemical Data.
Y. Suzuki, A. C. Crocker, and K. Suzuki (1971)
Arch Neurol 24, 58-64
   Abstract »    PDF »
Inborn Errors of Mucopolysaccharide Metabolism: Faulty degradative mechanisms are implicated in this group of human diseases.
E. F. Neufeld and J. C. Fratantoni (1970)
Science 169, 141-146
   PDF »
Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component.
S. Okada and J. S. O'Brien (1969)
Science 165, 698-700
   Abstract »    PDF »


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