Glycogen storage disease type III screening: Difference between revisions
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==Screening== | ==Screening== | ||
*Glycogen storage disease type 3 is an [[autosomal recessive]] disease. | *Glycogen storage disease type 3 is an [[autosomal recessive]] disease.<ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref> | ||
*[[Carrier]] [[Screening (medicine)|screening]] of at-risk relatives may be done. | *[[Carrier]] [[Screening (medicine)|screening]] of at-risk relatives may be done. | ||
*[[Screening (medicine)|Screening]] requires prior identification of AGL [[pathogenic]] variants in the family. | *[[Screening (medicine)|Screening]] requires prior identification of AGL [[pathogenic]] variants in the family. |
Revision as of 15:07, 22 December 2017
Glycogen storage disease type III Microchapters |
Differentiating Glycogen storage disease type III from other Diseases |
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Glycogen storage disease type III screening On the Web |
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Risk calculators and risk factors for Glycogen storage disease type III screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Glycogen storage disease type 3 is an autosomal recessive disease so carrier screening of at-risk relatives may be done. Screening requires prior identification of AGL pathogenic variants in the family.
Screening
- Glycogen storage disease type 3 is an autosomal recessive disease.[1]
- Carrier screening of at-risk relatives may be done.
- Screening requires prior identification of AGL pathogenic variants in the family.
References
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/