Publications by authors named "David Koeller"

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The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.
Julie A Beans, Susan Brown Trinidad, Aliassa L Shane, Kyle A Wark, Jaedon P Avey, David M Koeller

J Community Genet· December 2023

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A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Jennifer E Kyle, Kelly G Stratton, Erika M Zink, Young-Mo Kim, Kent J Bloodsworth, David M Koeller

Sci Data· April 2021

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Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, Jennifer Kyle, Judy L Peirce, David M Koeller

PLoS Genet· October 2020

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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, David M Koeller

PLoS Genet· June 2020

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Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network.
Bobbie-Jo M Webb-Robertson, Kelly G Stratton, Jennifer E Kyle, Young-Mo Kim, Lisa M Bramer, David M Koeller

Anal Chem· January 2020

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Kimberly Splinter, David R Adams, Carlos A Bacino, Hugo J Bellen, Jonathan A Bernstein, David M Koeller

N Engl J Med· November 2018

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Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, David M Koeller

Am J Ophthalmol Case Rep· June 2018

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, David M Koeller

Am J Hum Genet· March 2018

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Health effects of the CPT1A P479L variant: responsible public health policy.
David M Koeller, Matt Hirschfeld, Stephanie Birch, Thalia Wood, Rebekah Morisse

Genet Med· December 2017

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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Mayara Vendramin Pasquetti, Letícia Meier, Samanta Loureiro, Marcelo Ganzella, Bernardo Junges, David M Koeller

Epilepsia· October 2017

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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M Koeller, Jing Wang

Am J Med Genet A· September 2017

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Derralynn A Hughes, Kathleen Nicholls, Suma P Shankar, Gere Sunder-Plassmann, David Koeller

J Med Genet· April 2017

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, David M Koeller

J Inherit Metab Dis· January 2017

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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Bradford D Gessner, Thalia Wood, Monique A Johnson, Carolyn Sue Richards, David M Koeller

Genet Med· September 2016

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LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis.
Marta Martínez-García, Jenny Campos-Salinas, María Cabello-Donayre, Estela Pineda-Molina, Francisco J Gálvez, David M Koeller

Parasit Vectors· January 2016

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Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.
Katie E Geiger, David M Koeller, Cary O Harding, Kathleen L Huntington, Melanie B Gillingham

Nutr Res· January 2016

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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Sylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne DeBrosse, Kimberley Dessoffy, David M Koeller

Mol Genet Metab· December 2015

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CSF and Blood Levels of GFAP in Alexander Disease.
Paige L Jany, Guillermo E Agosta, William S Benko, Jens C Eickhoff, Stephanie R Keller, David Koeller

eNeuro· September 2015

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Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M Koeller

PLoS One· February 2015

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Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: a role for oxidative stress in GA I neuropathology.
Bianca Seminotti, Rafael Teixeira Ribeiro, Alexandre Umpierrez Amaral, Mateus Struecker da Rosa, Carolina Coffi Pereira, David M Koeller

J Neurol Sci· September 2014

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Reply: To PMID 23992672.
Bradford D Gessner, Melanie B Gillingham, Thalia Wood, David M Koeller

J Pediatr· August 2014

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Reply: To PMID 23992672.
Bradford D Gessner, Melanie B Gillingham, Thalia Wood, David M Koeller

J Pediatr· August 2014

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Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.
William J Zinnanti, Jelena Lazovic, Cathy Housman, David A Antonetti, David M Koeller

Acta Neuropathol Commun· January 2014

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Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.
Bradford D Gessner, Melanie B Gillingham, Thalia Wood, David M Koeller

J Pediatr· December 2013

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Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.
Bastian Thies, Catherine Meyer-Schwesinger, Jessica Lamp, Michaela Schweizer, David M Koeller

Biochim Biophys Acta· October 2013

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