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Author/Creator Larson, Austin A.

1. A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia. (May 2021)

Authors:
Finn, Erin; Kripps, Kimberly; Chambers, Christina; Rapp, Michele; Meeks, Naomi J. L.; Xu, Fang; Chen, Wuyan; Larson, Austin A.; Nokoff, Natalie J.
Journal:
Journal of investigative medicine high impact case reports
Issue:
Volume 9(2021)
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Record Type:
Journal Article
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3. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. Issue 2 (21st October 2021)

Authors:
Kripps, Kimberly A.; Sremba, Leighann; Larson, Austin A.; Van Hove, Johan L.K.; Nguyen, Hoanh; Wright, Erica L.; Mirsky, David M.; Watkins, David; Rosenblatt, David S.; Ketteridge, David; Berry, Susan A.; McCandless, Shawn E.; Baker, Peter R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 2(2022)
Page Start:
157
Record Type:
Journal Article
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4. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. Issue 5 (15th April 2020)

Authors:
Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood‐Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
1024
Record Type:
Journal Article
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5. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
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