Genomic organization of ATOX1, a human copper chaperone

por Liu, Po-Ching, Koeller, David M, Kaler, Stephen G
Publicado 2003

Evidence for an Association Between Infant Mortality and Homozygosity For the Arctic Variant of Carnitine Palmitoyltransferase 1A

por Gessner, Bradford D., Wood, Thalia, Johnson, Monique A., Richards, Carolyn Sue, Koeller, David M.
Publicado 2016

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

por Zinnanti, William J, Lazovic, Jelena, Housman, Cathy, Antonetti, David A, Koeller, David M, Connor, James R, Steinman, Lawrence
Publicado 2014

Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of Gcdh (-/-) Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Ty...

por Lagranha, Valeska Lizzi, Matte, Ursula, de Carvalho, Talita Giacomet, Seminotti, Bianca, Pereira, Carolina Coffi, Koeller, David M., Woontner, Michael, Goodman, Stephen I., de Souza, Diogo Onofre Gomes, Wajner, Moacir
Publicado 2014

LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis

por Martínez-García, Marta, Campos-Salinas, Jenny, Cabello-Donayre, María, Pineda-Molina, Estela, Gálvez, Francisco J., Orrego, Lina M., Sánchez-Cañete, María P., Malagarie-Cazenave, Sophie, Koeller, David M., Pérez-Victoria, José M.
Publicado 2016

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

por Gale, Michael J., Titus, Hope E., Harman, Gareth A., Alabduljalil, Talal, Dennis, Anna, Wilson, Jenny L., Koeller, David M., Finanger, Erika, Blasco, Peter A., Chiang, Pei-Wen, Karr, Daniel J., Yang, Paul
Publicado 2018

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

por Kyle, Jennifer E., Stratton, Kelly G., Zink, Erika M., Kim, Young-Mo, Bloodsworth, Kent J., Monroe, Matthew E., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Koeller, David M., Metz, Thomas O.
Publicado 2021

Diagnosis and management of glutaric aciduria type I – revised recommendations

por Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Publicado 2011

CSF and Blood Levels of GFAP in Alexander Disease

por Jany, Paige L., Agosta, Guillermo E., Benko, William S., Eickhoff, Jens C., Keller, Stephanie R., Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L., Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S., Messing, Albee
Publicado 2015

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

por Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sara J., Kyle, Jennifer, Peirce, Judy L., McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B., Macnamara, Ellen, Huang, Yan, Adams, David R., Toro, Camilo, Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Zink, Erika M., Bloodsworth, Kent J., Stratton, Kelly G., Koeller, David M., Metz, Thomas O., Washbourne, Philip, Westerfield, Monte
Publicado 2020

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

por Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sarah J., Kyle, Jennifer, Peirce, Judy L., McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B., Macnamara, Ellen, Huang, Yan, Adams, David R., Toro, Camilo, Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Zink, Erika M., Bloodsworth, Kent J., Stratton, Kelly G., Koeller, David M., Metz, Thomas O., Washbourne, Philip, Westerfield, Monte
Publicado 2020

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

por Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, Feldt-Rasmussen, Ulla
Publicado 2017

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

por Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Waters, Katrina M., Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Yamamoto, Shinya, Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.
Publicado 2018