The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
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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
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
Self-citationEnzyme 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
Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., Goldman, M., Grabowski, G., Packman, S., & Wilcox, W. R. (2003) · Annals of Internal Medicine · doi:10.7326/0003-4819-138-4-200302180-00014 · Cited by 766
Self-citationAn Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M., Yoshida, A., Kuriyama, M., Hayashibe, H., Sakuraba, H., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199508033330504 · Cited by 763
Self-citationScreening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry
Wilcken, B., Wiley, V., Hammond, J., & Carpenter, K. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa025225 · Cited by 677
Fan, J.-Q., Ishii, S., Asano, N., & Suzuki, Y. (1999) · Nature Medicine · doi:10.1038/4801 · Cited by 614
α-Galactosidase A deficiency. Fabry disease
Desnick, R. J. (2001) · Cited by 605
Self-citation
Cited by
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Circulation · doi:10.1161/cir.0b013e318223e2bd · Cited by 2,104
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.06.011 · Cited by 1,276
Germain, D. P. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-30 · Cited by 1,198
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Circulation · doi:10.1161/cir.0b013e318223e230 · Cited by 818
van der Ploeg, A. T., & Reuser, A. J. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61555-x · Cited by 756
Metadata
- Authors
- Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H., Ponzone, A., & Desnick, R. J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-07
- Volume
- 79
- Issue
- 1
- Pages
- 31-40
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2042609729
- Cited by
- 1,008
- References
- 36
- FWCI
- 19.80
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*. https://app.cochat.ai/papers/10.1086/504601
- The paper
- Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H., Ponzone, A., & Desnick, R. J. (2006). High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*. The American Journal of Human Genetics. https://doi.org/10.1086/504601
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.
