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Feasibility of newborn screening for pyridoxine-dependent epilepsy Pauly, Kristine; Woontner, Michael; Abdenur, Jose E.; Chaudhari, Bimal P.; Gosselin, Rachel; Kripps, Kimberly A.; Thomas, Janet A.; Wempe, Michael F.; Gospe Jr, Sidney M.; Coughlin Ii, Curtis R. Share Save
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal Share Save
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BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM Beltran, Carlos Mares; Abdenur, Jose; Chang, Richard; Barrick, Rebekah; Spongberg, Rebecca; Tise, Christina G.; Niehaus, Annie D.; Enns, Gregory Share Save
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy Coughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara Share Save
Tetrahydrobiopterin metabolism is impaired in chemically-induced, idiopathic and genetic mitochondrial deficiencies Cruz, Luisa; Pasa, Thomas; Scheffer, Debora; Eichwald, Tuany; Stover, Alexander; Schwartz, Philip; Huang, Wei-Ling; Walz, Roger; De Paul, Ana Lucia; Abdenur, Jose; Latini, Alexandra Share Save
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M. Share Save
GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity Paschall, Anna; Mavis, Alisha; Rikhi, Aruna; Sood, Vikrant; Porta, Gilda; Nampoothiri, Sheela; Gupta, Neerja; Abdenur, Jose; Muir, Andrew; Kishnani, Priya Share Save
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene Arnadottir, Gudny A.; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna, V; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Asmundsson, Jurate; Steffensen, Thora; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari Share Save
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency Keshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C.; Feillet, Francois; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rotig, Agnes; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W.; Taylor, Robert W.; Yue, Wyatt W.; Rahman, Shamima Share Save
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients Chapel-Crespo, Cristel; Gavrilov, Dimitar; Sowa, Mary; Myers, Jessica; Day-Salvatore, Debra-Lynn; Lynne, Haley; Regier, Debra; Starin, Danielle; Steenari, Maija; Schoonderwoerd, Kees; Abdenur, Jose E. Share Save
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G Lee, Angela J.; Jones, Karra A.; Butterfield, Russell J.; Cox, Mary O.; Konersman, Chamindra G.; Grosmann, Carla; Abdenur, Jose E.; Boyer, Monica; Beson, Brent; Wang, Ching; Dowling, James J.; Gibbons, Melissa A.; Ballard, Alison; Janas, Joanne S.; Leshner, Robert T.; Donkervoort, Sandra; Bonnemann, Carsten G.; Malicki, Denise M.; Weiss, Robert B.; Moore, Steven A.; Mathews, Katherine D. Share Save
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes Simon, Mariella T.; Eftekharian, Shaya S.; Stover, Alexander E.; Osborne, Aaron F.; Braffman, Bruce H.; Chang, Richard C.; Wang, Raymond Y.; Steenari, Maija R.; Tang, Sha; Hwu, Paul Wuh-Liang; Taft, Ryan J.; Benke, Paul J.; Abdenur, Jose E. Share Save
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