Glycogen storage disease type III screening: Difference between revisions
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{{Glycogen storage disease type III}} | {{Glycogen storage disease type III}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
Glycogen storage disease type 3 is an [[autosomal recessive]] disease so [[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== | ==Screening== | ||
*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. | ||
*[[Screening (medicine)|Screening]] requires prior identification of AGL [[pathogenic]] variants in the family. | |||
* | |||
* | |||
==References== | ==References== | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
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[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
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[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 15:09, 29 December 2017
Glycogen storage disease type III Microchapters |
Differentiating Glycogen storage disease type III from other Diseases |
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Diagnosis |
Treatment |
Case Studies |
Glycogen storage disease type III screening On the Web |
American Roentgen Ray Society Images of Glycogen storage disease type III screening |
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: Anmol Pitliya, M.B.B.S. M.D.[2]
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/