The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Inborn Errors of Mucopolysaccharide Metabolism: Faulty degradative mechanisms are implicated in this group of human diseases.
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Cites
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Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured Fibroblasts
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Self-citationThe Abnormalities of Lysosomal Enzymes in Mucopolysaccharidoses
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Dermatan sulfate-protein: Isolation from and interaction with collagen
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Structural Studies on Heparitin Sulfate of Normal and Hurler Tissues
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The acid mucopolysaccharides in normal urine.
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The biosynthesis of chondroitin-sulfate protein complex.
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The measurement of urinary mucopolysaccharides
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Fratantoni, J. C., Neufeld, E. F., Uhlendorf, B. W., & Jacobson, C. B. (1969) · New England Journal of Medicine · doi:10.1056/nejm196903272801303 · Cited by 123
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Acid hydrolases in skin and plasma in gargoylism. Deficiency of β-galactosidase in skin
Öckerman, P. A. (1968) · Clinica Chimica Acta · doi:10.1016/0009-8981(68)90375-6 · Cited by 111
Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme
Ho, M. W., & O’Brien, J. S. (1969) · Science · doi:10.1126/science.165.3893.611 · Cited by 106
Fransson, L., & Rodén, L. (1967) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)95794-7 · Cited by 100
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Lindahl, U. (1966) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(66)90233-9 · Cited by 93
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Ginsburg, V., & Neufeld, E. (1969) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.38.070169.002103 · Cited by 87
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Beta-Galactosidase Deficiency in the Hurler Syndrome
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Chondroitin Sulfate: Inhibition of Synthesis by Puromycin
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Fransson, L. (1968) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(68)90260-2 · Cited by 62
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Muir, H. (1964) · International Review of Connective Tissue Research · doi:10.1016/b978-1-4831-6751-0.50009-4 · Cited by 59
The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture.
Matalon, R. K., & Dorfman, A. (1968) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.60.1.179 · Cited by 54
Biochemical and ultrastructural studies in Hurler's syndrome
Loeb, H., Jonniaux, G., Résibois, A., Cremer, N., Dodion, J., Tondeur, M. C., Gregoire, P. E., Richard, J., Cieters, P., & Voet, W. (1968) · The Journal of Pediatrics · doi:10.1016/s0022-3476(68)80239-2 · Cited by 51
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The Dermatan Sulfate-Protein Linkage Region
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The structures of xylosylserine and galactosylxylosylserine from heparin
Lindahl, U. (1966) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(66)90232-7 · Cited by 36
Bj, W., Kaplan, D., Adachi, M., Schneck, L., & Bw, V. (1966) · PubMed · Cited by 29
The enzymatic degradation of heparitin sulfate
Linker, A., & Hovingh, P. (1968) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(68)90192-x · Cited by 28
GLYCOSIDASES IN SKIN AND PLASMA IN HUNTER'S SYNDROME Abnormality of a β‐galactosidase in Skin
Öckerman, P. A., & Köhlin, P. (1968) · Acta Paediatrica · doi:10.1111/j.1651-2227.1968.tb07292.x · Cited by 28
Vitamin C-Induced Increase of Dermatan Sulfate in Cultured Hurler's Fibroblasts
Schafer, I. A., Sullivan, J. C., Svejcar, J., Kofoed, J. A., & Robertson, W. V. B. (1966) · Science · doi:10.1126/science.153.3739.1008 · Cited by 27
[ULTRASTRUCTURE OF THE HEPATIC CELLS IN HURLER'S DISEASE (GARGOYLISM)].
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White Blood Cell Cultures in Genetic Studies on the Human Mucopolysaccharidoses
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Research works printed but not linked: 9
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- FRATANTONI, J.C., DEFECT IN HURLERS AND HUNTERS SYNDROMES - FAULTY DEGRADATION OF MUCOPOLYSACCHARIDE, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 60: 699 (1968).
- HARRIS, R.C., AMERICAN JOURNAL OF DISEASES OF CHILDREN 102: 741 (1961).
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- VANHOOF, F, LULTRASTRUCTURE DES CELLULES HEPATIQUES DANS LA MALADIE DE HURLER ( GARGOYLISME ), COMPTES RENDUS HEBDOMADAIRES DES SEANCES DE L ACADEMIE DES SCIENCES 259: 1281 (1964).
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Structure and Metabolism of Connective Tissue Proteoglycans
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Metadata
- Authors
- Neufeld, E. F., & Fratantoni, J. C.
- Venue
- Science
- Published
- 1970-07-10
- Volume
- 169
- Issue
- 3941
- Pages
- 141-146
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1670697904
- Cited by
- 215
- References
- 47
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 2 · 2020: 3 · 2019: 4 · 2018: 4 · 2017: 8 · 2016: 3 · 2014: 7 · 2013: 6 · 2012: 2
- FWCI
- 30.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Keywords
- inborn errors of metabolism, mucopolysaccharidosis, glycosaminoglycans, lysosomal storage disease, lysosomal enzymes, glycosaminoglycan metabolism
- MeSH terms
- Carbohydrate Metabolism, Inborn Errors, Chondroitin, Fibroblasts, Galactosidases, Genes, Recessive, Glycosaminoglycans, Humans, Liver, Lysosomes, Intellectual Disability, Molecular Biology, Mucopolysaccharidoses, Mucoproteins, Retinitis Pigmentosa, Sex Chromosome Aberrations, Sulfates, Sulfur Isotopes, Culture Techniques
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