Title

Diagnosis and Management of Glycogen Storage Disease Type I

Authoring Organization

American College of Medical Genetics and Genomics

Publication Month/Year

August 1, 2014

Last Updated Month/Year

April 2, 2024

Document Type

Guideline

External Publication Status

Published

Country of Publication

US

Inclusion Criteria

Female, Male, Adolescent, Child, Infant

Health Care Settings

Ambulatory, Childcare center, Emergency care, Hospital, Long term care

Intended Users

Medical techologist technician, genetics, nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis, Management, Treatment

Keywords

neutropenia, glycogen storage disease, glycogen storage disease type I, von Gierke disease, neutrophil function

Source Citation

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975.