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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they 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. Please refer to the leading disclaimer in each document for more information.
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- ACMG Standards and GuidelinesOpen Archive
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Genetics in MedicineVol. 16Issue 11e1–e29Published in issue: November, 2014- Priya S. Kishnani
- Stephanie L. Austin
- Jose E. Abdenur
- Pamela Arn
- Deeksha S. Bali
- Anne Boney
- and others
Cited in Scopus: 217This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this guideline is completely voluntary and does not necessarily ensure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.