Elsevier

Genetics in Medicine

Volume 8, Issue 5, May 2006, Pages 267-288
Genetics in Medicine

ACMG Practice Guidelines
Pompe disease diagnosis and management guideline

https://doi.org/10.1097/01.gim.0000218152.87434.f3Get rights and content
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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.

Keywords

Pompe disease
acid maltase deficiency
lysosomal storage disease
glycogen storage
disease type II
management guidelines

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