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
The Metabolic Basis of Inherited Disease.
(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-3-503_7 · Cited by 7,807
Sex chromatin and gene action in the mammalian X-chromosome.
Lyon, M. F. (1962) · PubMed Central · Cited by 1,009
Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured Fibroblasts
Fratantoni, J. C., Hall, C. W., & Neufeld, E. F. (1968) · Science · doi:10.1126/science.162.3853.570 · Cited by 446
Self-citationThe Abnormalities of Lysosomal Enzymes in Mucopolysaccharidoses
Hoof, F. V., & Hers, H. G. (1968) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1968.tb19570.x · Cited by 387
Suzuki, S., Saito, H., Yamagata, T., Anno, K., Seno, N., Kawai, Y., & Furuhashi, T. (1968) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)93576-3 · Cited by 314
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.
Fratantoni, J. C., Hall, C. W., & Neufeld, E. F. (1968) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.60.2.699 · Cited by 311
Self-citationÜber einen Typ multipler Abartungen, vorwiegend am Skelettsystem
Hurler, G. (1920) · European Journal of Pediatrics · doi:10.1007/bf02222956 · Cited by 229
Gargoylism – A mucopolysaccharidosis
Brante, G. (1952) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365515209060631 · Cited by 228
Danes, B. S., & Bearn, A. G. (1966) · The Journal of Experimental Medicine · doi:10.1084/jem.123.1.1 · Cited by 176
Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.
Matalon, R. K., & Dorfman, A. (1966) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.56.4.1310 · Cited by 170
Research works printed but not linked: 9
- Fratantoni, J. C., Proceedings of the National Academy of Sciences of the United States of America 60: 699 (1968).
- 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).
- Hiatt, H. H., The Metabolic Basis of Inherited Disease: 109 (1966).
- HUNTER, C, PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE. SECTION FOR THE STUDY OF DISEASE IN CHILDREN 10: 104 (1917).
- HURLER, G, ZEITSCHRIFT FUR KINDERHEILKUNDE 24: 220 (1919).
- PATEL V THESIS U CALIFORNIA (1969).
- RAMPINI, S, SANFILIPPO SYNDROME (POLYDYSTROPHIC OLIGOPHRENIA HURLERS SYNDROME-MUCOPOLYSACCHARIDOSIS) . 8 CASES AND SURVEY OF LITERATURE, HELVETICA PAEDIATRICA ACTA 24: 55 (1969).
- 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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Items 201–215 of 215
Gene Therapy Approaches for Neurological Lysosomal Storage Diseases
McCurdy, V. J. (2014)
(2008) · CRC Press eBooks · doi:10.3109/9781420020977-42
(2001) · CRC Press eBooks · doi:10.1201/9781420038736.bmatt
Amniotic Fluid: Biochemical Assays Relating to Fetal Viability
Sárközi, L. (1977) · Springer eBooks · doi:10.1007/978-1-4757-6143-6_34
Mellinger, J. F. (1972) · Psychiatric Annals · doi:10.3928/0048-5713-19720101-08
Magner, M., & Jirečková, J. (2018) · Neurologie pro praxi · doi:10.36290/neu.2018.037
IVEMARK, B. I. (1974) · Springer eBooks · doi:10.1007/978-3-642-65723-8_7
Drug delivery systems in Krabbe disease—present and prospective approaches
Priyadharshini, A. P., Umamaheswari, A., Vijayalakshmi, M., Chellappan, D. K., Dua, K., & Prabu, S. L. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-99616-7.00030-x
Hypoxia in fibroblast cultures
Kittlick, P. D., & Neupert, G. (1975) · Experimentelle Pathologie · doi:10.1016/s0014-4908(75)80028-7
The Lysosomal Storage Diseases
O’Brien, J. F. (1982) · Mayo Clinic Proceedings · doi:10.1016/s0025-6196(25)18699-0
Ziółkowska, E., Jablonka‐Shariff, A., Williams, L. L., Eultgen, E. M., Wood, M. D., Hunter, D. A., Sands, M. S., Snyder‐Warwick, A. K., & Cooper, J. D. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27073080
Glycovecteurs pour le ciblage thérapeutique d'une maladie rare lysosomale : la maladie de Pompe
Silva, A. D. (2017) · theses.fr (ABES) · doi:10.70675/458483cezbec6z4277zb67dz629203c5deba
The treatment of genetic mucopolysaccharidoses
WIESMANN, U. N. (1975) · Springer eBooks · doi:10.1007/978-94-011-6615-7_14
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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