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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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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Dietrich, C. P., Nader, H. B., & Mourão, P. A. S. (1973) · Biochemical Medicine · doi:10.1016/0006-2944(73)90042-2 · Cited by 23
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Griffiths, R., & Tudball, N. (1977) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1977.tb11390.x · Cited by 18
Sena‐Esteves, M., Camp, S. M., Alroy, J., & Breakefield, X. O. (2000) · Human Gene Therapy · doi:10.1089/10430340050015617 · Cited by 18
McCurdy, V. J., Johnson, A. K., Gray‐Edwards, H. L., Randle, A. N., Bradbury, A. M., Morrison, N. E., Hwang, M., Baker, H. J., Cox, N. R., Sena‐Esteves, M., et al. (2020) · Gene Therapy · doi:10.1038/s41434-020-00190-1 · Cited by 17
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Macauley, S. L., & Sands, M. S. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.03.040 · Cited by 17
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Desnick, R. J., & Grabowski, G. A. (1981) · Springer eBooks · doi:10.1007/978-1-4615-8303-5_5 · Cited by 17
Lorincz, M. C., Parente, M. K., Roederer, M., Nolan, G. P., Diwu, Z. J., Martin, D. I. K., Herzenberg, L. A., & Wolfe, J. H. N. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.2.657 · Cited by 16
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Sohn, Y. B., Park, S. W., Kim, S., Cho, S., Ji, S., Kwon, E. K., Han, S. J., Oh, S. J., Park, Y. J., Ko, A., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35263 · Cited by 15
Chan, C. C., Green, W. R., Maumenee, I. H., & Sack, G. H. (1983) · Ophthalmic Paediatrics and Genetics · doi:10.3109/13816818309007145 · Cited by 15
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Hepatic acid mucopolysaccharides in the mucopolysaccharidoses type I, II and III
Gordon, B. A., & Haust, M. D. (1971) · Clinical Biochemistry · doi:10.1016/s0009-9120(71)91222-7 · Cited by 12
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Kochhar, D. M., & Larsson, K. (1977) · Springer eBooks · doi:10.1007/978-1-4615-8933-4_10 · Cited by 8
Prutkin, L. (1971) · PubMed · Cited by 9
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Murata, F., Wohltman, H., Spicer, S. S., & Nagata, T. (1977) · Virchows Archiv B Cell Pathology Including Molecular Pathology · doi:10.1007/bf02889421 · Cited by 8
KANAN, M. W., Francis, M. J. O., Sykes, B. C., Reed, W. B., RYAN, T. J., van Diest, P. J., & Marsden, A. (1977) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1977.tb07156.x · Cited by 8
Shyng, C., Macauley, S. L., Dearborn, J. T., & Sands, M. S. (2017) · JIMD Reports · doi:10.1007/8904_2017_1 · Cited by 7
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Urinary excretion of acid mucopolysaccharides in schizophrenia
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Kittlick, P. D., & Neupert, G. (1975) · PubMed · Cited by 6
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The isolation and characterization of glycosaminoglycans in normal human serum
Bower, L., Braven, J., & Manley, G. (1988) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/0731-7085(88)80031-1 · Cited by 5
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Mareel, M., Dragonetti, C. H., & Dacremont, G. (1979) · Histochemistry and Cell Biology · doi:10.1007/bf00644547 · Cited by 5
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HERSCHKOWITZ, N. N. (1973) · Springer eBooks · doi:10.1007/978-1-4684-2670-0_4 · Cited by 5
Sands, M. S. (2004) · Oxford University Press eBooks · doi:10.1093/acprof:oso/9780198508786.003.0016 · Cited by 5
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The management of lysosomal disorders
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Benítez, B. A., Wallace, C. E., Patel, M., Nykänen, N.-P., Yuede, C. M., Eaton, S. L., Pottier, C. P., Cetin, A., Johnson, M., Bevan, M. T., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.11.16.623962 · Cited by 4
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Singh, A., Debnath, R., Saini, A., Seni, K., Sharma, A., Bisht, D. S., Chawla, V., & Chawla, P. A. (2024) · Health Sciences Review · doi:10.1016/j.hsr.2024.100160 · Cited by 3
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Kaback, M. M., Percy, A. K., & Kasselberg, A. G. (1972) · Advances in experimental medicine and biology · doi:10.1007/978-1-4757-6570-0_31 · Cited by 3
Hypoxia in fibroblast cultures
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Sondhi, D., Crystal, R. G., & Kaminsky, S. M. (2016) · Springer eBooks · doi:10.1007/978-1-4899-7654-3_7 · Cited by 2
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Kaye, E. M. (1998) · Humana Press eBooks · doi:10.1007/978-1-59259-478-8_19 · Cited by 2
Prutkin, L. (1975) · Cellular and Molecular Life Sciences · doi:10.1007/bf02026398 · Cited by 2
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François, J. (1975) · Bericht über die Zusammenkunft - Deutsche Ophthalmologische Gesellschaft · doi:10.1007/978-3-642-47089-9_47 · Cited by 2
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Park, K. I., Palacino, J. J., Taylor, R. M., Aboody, K. S., Tate, B. A., Ourednik, V., Ourednik, J., Lachyankar, M. B., & Snyder, E. Y. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-298-2_11 · Cited by 2
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Tsuji, D., & Itoh, K. (2013) · InTech eBooks · doi:10.5772/54074 · Cited by 1
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Allenspach, A. L., & Berlin, J. D. (1971) · Journal of Morphology · doi:10.1002/jmor.1051350208 · Cited by 1
Spranger, J. W. (1974) · Springer eBooks · doi:10.1007/978-3-642-65627-9_8 · Cited by 1
Barry, L. A., Kay, G. W., Mitchell, N. L., Murray, S. J., Jay, N. P., & Palmer, D. N. (2022) · PLoS ONE · doi:10.1371/journal.pone.0261544 · Cited by 2
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Fuhrmann, W. (1972) · Elsevier eBooks · doi:10.1016/b978-0-08-017290-3.50035-3 · Cited by 1
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Lee, J.-P., Clark, D. B., Jeyakumar, M., Gonzalez, R., McKercher, S. R., Muller, F.-J., Jandial, R., Taylor, R. M., Park, K. I., Seyfried, T. N., et al. (2007) · Springer eBooks · doi:10.1007/978-0-387-70909-3_14 · Cited by 1
Urinary amino acid output in children with Hurler's syndrome
Applegarth, D. A., Bozoian, G., Sturrock, S., & Tischler, B. (1972) · Clinica Chimica Acta · doi:10.1016/0009-8981(72)90327-0 · Cited by 1
Syndrome of the defective lysosome--the genetic mucopolysaccharidoses.
Rennert, O. (1975) · PubMed · Cited by 1
Smith, R. (1979) · Elsevier eBooks · doi:10.1016/b978-0-407-00122-0.50016-3 · Cited by 1
Current Views of the Embryonic and Neural Stem Cell
Sabetrasekh, R., Teng, Y. D., Ourednik, J., Park, K. I., & Snyder, E. Y. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-147-5_1
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Sárközi, L. (1982) · Springer eBooks · doi:10.1007/978-1-4757-1767-9_33
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McDonough, P. G. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.02.004
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MAROTEAUX, P. (1998) · Revue Française des Laboratoires · doi:10.1016/s0338-9898(98)80063-2
Inborn errors of metabolism: principles and their applications.
Pinksy, L. (1972) · PubMed Central
Prenatal Genetics with Particular Reference to Neurological Disease
Zellweger, H. (1974) · Acta geneticae medicae et gemellologiae · doi:10.1017/s1120962300023659
CELL INTERACTION IN THE PACKAGING OF LYSOSOMAL ENZYMES
Neufeld, E. F. (1975) · Elsevier eBooks · doi:10.1016/b978-0-12-597850-7.50041-9
Self-citationKlinische Aspekte der Vererbung
Clevė, H. (1974) · Springer eBooks · doi:10.1007/978-3-642-65627-9_1
Cord Blood Transplants for Nonmalignant Disorders: Data, Consensus, and Challenges
Prasad, V. K. (2017) · Springer eBooks · doi:10.1007/978-3-319-53628-6_7
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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