PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights von Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo W T, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald J A, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara D M

Volltext

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy von Engelke, Udo F.H, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred A.M.G, van Rooij, Arno, Berden, Giel, Huigen, Marleen C.D.G, Kluijtmans, Leo A.J, Peters, Tessa M.A, Shekaili, Hilal H. Al, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris P.J.T, Mecinovic, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M., Jr, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A.A.P, Bok, Levinus A, van Karnebeek, Clara D.M, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien L.M

Volltext

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice von Johal, Amritpal S., Al-Shekaili, Hilal H., Abedrabbo, Muna, Kehinde, Abisola Z., Towriss, Morgan, Koe, Jessica C., Hewton, Keeley G., Thomson, Sarah B., Ciernia, Annie V., Leavitt, Blair, Parker, Seth J.

Volltext

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency von Al-Shekaili, Hilal H, Petkau, Terri L, Pena, Izabella, Lengyell, Tess C, Verhoeven-Duif, Nanda M, Ciapaite, Jolita, Bosma, Marjolein, van Faassen, Martijn, Kema, Ido P, Horvath, Gabriella, Ross, Colin, Simpson, Elizabeth M, Friedman, Jan M, van Karnebeek, Clara, Leavitt, Blair R

Volltext

Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice von Van Raamsdonk, Jeremy M, Al-Shekaili, Hilal H, Wagner, Laura, Bredy, Tim W, Chan, Laura, Pearson, Jacqueline, Schwab, Claudia, Murphy, Zoe, Devon, Rebecca S, Lu, Ge, Kobor, Michael S, Hayden, Michael R, Leavitt, Blair R

Volltext

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxinedependent epilepsy von Engelke, Udo F H, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred A M G, van Rooij, Arno, Berden, Giel, Huigen, Marleen C D G, Kluijtmans, Leo A J, Peters, Tessa M A, Al-Shekaili, Hilal H, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris P J T, Mecinović, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A A P, Bok, Levinus A, van Karnebeek, Clara D M, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien L M

Volltext