Glycogen storage disease type I screening: Difference between revisions
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==Screening== | ==Screening== | ||
*Glycogen storage disease type 1 is an autosomal recessive disease. | *Glycogen storage disease type 1 is an autosomal recessive disease.<ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/ | ||
</ref> | |||
*Carrier screening of at-risk relatives may be done. | *Carrier screening of at-risk relatives may be done. | ||
*screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family. | *screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family. |
Revision as of 20:45, 20 November 2017
Glycogen storage disease type I Microchapters |
Differentiating Glycogen storage disease type I from other Diseases |
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Glycogen storage disease type I screening On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Screening
- Glycogen storage disease type 1 is an autosomal recessive disease.[1]
- Carrier screening of at-risk relatives may be done.
- screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family.
References
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/