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Cited by 632

The DOI matches its Crossref record; 92 of the 92 references it cites were found in a registry or an index.

Pompe disease diagnosis and management guideline

Open access
Kishnani, Priya S., Steiner, Robert D., Bali, Deeksha, Berger, Kenneth, Byrne, Barry J., Case, Laura E., Crowley, John F., Downs, Steven, Howell, R. Rodney, Kravitz, Richard M., Mackey, Joanne, Marsden, Deborah, Martins, Anna Maria, Millington, David S., Nicolino, Marc, O’grady, Gwen, Patterson, Marc C., Rapoport, David M., Slonim, Alfred, Spencer, Carolyn T., Tifft, Cynthia J., Watson, Michael S.·2006·Genetics in Medicine
DOI 10.1097/01.gim.0000218152.87434.f3
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Abstract

Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these standards and guidelines.

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Registry

Crossref · 10.1097/01.gim.0000218152.87434.f3

Cites

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Metadata

Authors
Kishnani, P. S., Steiner, R. D., Bali, D., Berger, K., Byrne, B. J., Case, L. E., Crowley, J. F., Downs, S., Howell, R. R., Kravitz, R. M., Mackey, J., Marsden, D., Martins, A. M., Millington, D. S., Nicolino, M., O’grady, G., Patterson, M. C., Rapoport, D. M., Slonim, A., Spencer, C. T., Tifft, C. J., & Watson, M. S.
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2006-05
Volume
8
Issue
5
Pages
267-288
ISSN
1098-3600 (ISSN-L)
DOI
10.1097/01.gim.0000218152.87434.f3
OpenAlex
W2134392644
Cited by
632
References
92
FWCI
9.37
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Pompe disease diagnosis and management guideline. https://app.cochat.ai/papers/10.1097/01.gim.0000218152.87434.f3
The paper
Kishnani, P. S., Steiner, R. D., Bali, D., Berger, K., Byrne, B. J., Case, L. E., Crowley, J. F., Downs, S., Howell, R. R., Kravitz, R. M., Mackey, J., Marsden, D., Martins, A. M., Millington, D. S., Nicolino, M., O’grady, G., Patterson, M. C., Rapoport, D. M., Slonim, A., . . . Watson, M. S. (2006). Pompe disease diagnosis and management guideline. Genetics in Medicine. https://doi.org/10.1097/01.gim.0000218152.87434.f3

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.