Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse

por Vogel, Kara R, Ainslie, Garrett R, Jansen, Erwin E W, Salomons, Gajja S, Gibson, K Michael
Publicado 2015

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells

por Vogel, Kara R., Ainslie, Garrett R., Jansen, Erwin E., Salomons, Gajja S., Roullet, Jean-Baptiste, Gibson, K. Michael
Publicado 2017

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

por Minenkova, Anastasia, Jansen, Erwin E. W., Cameron, Jessie, Barto, Rob, Hurd, Thomas, MacNeil, Lauren, Salomons, Gajja S., Mercimek-Andrews, Saadet
Publicado 2021

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects

por Walters, Dana C., Jansen, Erwin E. W., Ainslie, Garrett R., Salomons, Gajja S., Brown, Madalyn N., Schmidt, Michelle A., Roullet, Jean‐Baptiste, Gibson, K. M.
Publicado 2019

Fecal Amino Acid Analysis in Newly Diagnosed Pediatric Inflammatory Bowel Disease: A Multicenter Case-Control Study

por Jagt, Jasmijn Z, Struys, Eduard A, Ayada, Ibrahim, Bakkali, Abdellatif, Jansen, Erwin E W, Claesen, Jürgen, van Limbergen, Johan E, Benninga, Marc A, de Boer, Nanne K H, de Meij, Tim G J
Publicado 2021

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

por Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., van Dooren, Silvy J. M., Ozturk, Senay, van Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, van der Knaap, Marjo S., Gibson, K. Michael, van Schaftingen, Emile, Salomons, Gajja S.
Publicado 2019

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

por van de Kamp, Jiddeke M., Bökenkamp, Arend, Smith, Desiree E. C., Wamelink, Mirjam M. C., Jansen, Erwin E. W., Struys, Eduard A., Waisfisz, Quinten, Verkleij, Marieke, Hartmann, Michaela F., Wang, Rong, Wudy, Stefan A., Paganini, Chiara, Rossi, Antonio, Finken, Martijn J. J.
Publicado 2022

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

por Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.
Publicado 2017

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

por Wang, Fang, Travins, Jeremy, Lin, Zhizhong, Si, Yaguang, Chen, Yue, Powe, Josh, Murray, Stuart, Zhu, Dongwei, Artin, Erin, Gross, Stefan, Santiago, Stephanie, Steadman, Mya, Kernytsky, Andrew, Straley, Kimberly, Lu, Chenming, Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Salomons, Gajja S., David, Muriel D., Quivoron, Cyril, Penard-Lacronique, Virginie, Regan, Karen S., Liu, Wei, Dang, Lenny, Yang, Hua, Silverman, Lee, Agresta, Samuel, Dorsch, Marion, Biller, Scott, Yen, Katharine, Cang, Yong, Su, Shin-San Michael, Jin, Shengfang
Publicado 2016