Publications by authors named "Austin A Larson"

10Publications

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

Mitochondrion 2020 11 12;55:8-13. Epub 2020 Sep 12.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2020.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669648PMC
November 2020

In memoriam.

J Inherit Metab Dis 2018 May 7. Epub 2018 May 7.

University of Colorado and Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1007/s10545-018-0191-2DOI Listing
May 2018

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Pediatr Nephrol 2018 07 10;33(7):1257-1261. Epub 2018 Apr 10.

Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00467-018-3937-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990461PMC
July 2018

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019