The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Prevalence of lysosomal storage disorders
Meikle, P. J. (1999) · JAMA · doi:10.1001/jama.281.3.249 · Cited by 2,197
Human Gene Mutation Database (HGMD®): 2003 update: HGMD 2003 UPDATE
Stenson, P. D., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N. S. T., Abeysinghe, S., Krawczak, M., & Cooper, D. N. (2003) · Human Mutation · doi:10.1002/humu.10212 · Cited by 1,829
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S., Caplan, L., Linthorst, G. E., & Desnick, R. J. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107053450102 · Cited by 1,559
Enzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial
Schiffmann, R., Kopp, J. B., Austin III, H. A., Sabnis, S., Moore, D. F., Weibel, T., Balow, J. E., & Brady, R. O. (2001) · JAMA · doi:10.1001/jama.285.21.2743 · Cited by 1,302
Enzyme-Replacement Therapy in Mucopolysaccharidosis I
Kakkis, E. D., Muenzer, J., Tiller, G. E., Waber, L., Belmont, J., Passage, M., Izykowski, B., Phillips, J., Doroshow, R., Walot, I., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200101183440304 · Cited by 667
Self-citationWeinreb, N. J., Charrow, J., Andersson, H. C., Kaplan, P., Kolodny, E. H., Mistry, P., Pastores, G., Rosenbloom, B. E., Scott, C. R., Wappner, R. S., et al. (2002) · The American Journal of Medicine · doi:10.1016/s0002-9343(02)01150-6 · Cited by 546
Peters, C., Shapiro, E. G., Anderson, J., Henslee-Downey, P. J., Klemperer, M. R., Cowan, M. J., Saunders, E. F., deAlarcon, P. A., Twist, C., Nachman, J. B., et al. (1998) · Blood · doi:10.1182/blood.v91.7.2601 · Cited by 342
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
Peters, C., Balthazor, M., Shapiro, E., King, R., Kollman, C., Hegland, J., Henslee- Downey, J., Trigg, M., Cowan, M., Sanders, J., et al. (1996) · Blood · doi:10.1182/blood.v87.11.4894.bloodjournal87114894 · Cited by 315
Cited by
Syndromic retinitis pigmentosa.
Karuntu, J. S., Almushattat, H., Nguyen, X.-T.-A., Plomp, A. S., Wanders, R. J. A., Hoyng, C. B., van Schooneveld, M. J., Schalij-Delfos, N. E., Brands, M. M., Leroy, B. P., et al. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101324 · Cited by 39
Metadata
- Authors
- Muenzer, J.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2004-05
- Volume
- 144
- Issue
- 5
- Pages
- S27-S34
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2010188647
- Cited by
- 290
- References
- 19
- FWCI
- 6.27
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
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How to cite
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- CoChat. (2026). Citation check: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. https://app.cochat.ai/papers/10.1016/j.jpeds.2004.01.052
- The paper
- Muenzer, J. (2004). The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. The Journal of Pediatrics. https://doi.org/10.1016/j.jpeds.2004.01.052
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
