Publications by authors named "Austin A Larson"

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The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders.
Andrea Cortés Fernández, Jane Estrella, Devin Oglesbee, Austin A Larson, Johan L K Van Hove

J Inherit Metab Dis· January 2025

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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Rodrigo T Starosta, Austin A Larson, Naomi J L Meeks, Sara Gracie, Marisa W Friederich

Mitochondrion· November 2024

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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Johan L K Van Hove, Marisa W Friederich, Daniella H Hock, David A Stroud, Nikeisha J Caruana, Austin A Larson

Mitochondrion· September 2024

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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kimberly A Kripps, Leighann Sremba, Austin A Larson, Johan L K Van Hove, Hoanh Nguyen

J Inherit Metab Dis· March 2022

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A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
Erin Finn, Kimberly Kripps, Christina Chambers, Michele Rapp, Naomi J L Meeks, Austin A Larson

J Investig Med High Impact Case Rep· October 2021

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REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kimberly A Kripps, Peter R Baker, Janet A Thomas, Heather E Skillman, Laurie Bernstein, Austin A Larson

Mol Genet Metab· July 2021

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A novel acceptor stem variant in mitochondrial tRNA impairs mitochondrial translation and is associated with a severe phenotype.
Kimberly A Kripps, Marisa W Friederich, Ting Chen, Austin A Larson, David M Mirsky

Mol Genet Metab· December 2020

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Austin A Larson

J Inherit Metab Dis· November 2020

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The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
Kaz M Knight, Emily Shelkowitz, Austin A Larson, David M Mirsky, Yue Wang

Mitochondrion· November 2020

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Marisa W Friederich, Abdallah F Elias, Alice Kuster, Lucia Laugwitz, Austin A Larson

J Inherit Metab Dis· September 2020

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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, A Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, Austin A Larson

Genet Med· May 2020

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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, William Berquist, Natalia Gomez-Ospina, Austin A Larson

Mol Genet Metab· May 2020

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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Austin A Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C Burrage, Ronit Marom

Mitochondrion· January 2019

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, Sandrine Gulberti, Delfien Syx, Austin A Larson

Hum Mol Genet· October 2018

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Michelle C Starr, Irene J Chang, Laura S Finn, Angela Sun, Austin A Larson

Pediatr Nephrol· July 2018

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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Austin A Larson, Peter R Baker, Miroslav P Milev, Craig A Press, Ronald J Sokol

Skelet Muscle· May 2018

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