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Metabolic disorders

  • NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
    Virginia Kimonis, Rehab al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis
    Journal of Medical Genetics May 2021, 58 (5) 314-325; DOI: 10.1136/jmedgenet-2020-106846
  • Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
    Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man
    Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
  • Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
    Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani
    Journal of Medical Genetics Mar 2021, 58 (3) 155-167; DOI: 10.1136/jmedgenet-2020-106861
  • Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
    Paul de Laat, Richard R Rodenburg, Nel Roeleveld, Saskia Koene, Jan A Smeitink, Mirian CH Janssen
    Journal of Medical Genetics Jan 2021, 58 (1) 48-55; DOI: 10.1136/jmedgenet-2019-106800
  • Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition
    Jan Krzysztof Nowak, Łukasz Kałużny, Wojciech Suda, Anna Bukowska-Posadzy, Alex Adams, Ireneusz Grulkowski, Jarosław Kocięcki, Jarosław Walkowiak
    Journal of Medical Genetics Dec 2020, 57 (12) 863-864; DOI: 10.1136/jmedgenet-2019-106770
  • Cardiac valve involvement in ADAR-related type I interferonopathy
    Yanick Crow, Nandaki Keshavan, Jacques Patrick Barbet, Geanina Bercu, Vincent Bondet, Charlotte Boussard, Nathalie Dedieu, Darragh Duffy, Marie Hully, Alessandro Giardini, Cyril Gitiaux, Gillian Inara Rice, Luis Seabra, Brigitte Bader-Meunier, Shamima Rahman
    Journal of Medical Genetics Jul 2020, 57 (7) 475-478; DOI: 10.1136/jmedgenet-2019-106457
  • Retrospective natural history of thymidine kinase 2 deficiency
    Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
    Journal of Medical Genetics Aug 2018, 55 (8) 515-521; DOI: 10.1136/jmedgenet-2017-105012
  • Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
    Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong‐Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Han-Wook Yoo
    Journal of Medical Genetics Feb 2020, 57 (2) 124-131; DOI: 10.1136/jmedgenet-2019-106132
  • Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
    Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, Carolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman
    Journal of Medical Genetics Mar 2019, 56 (3) 123-130; DOI: 10.1136/jmedgenet-2018-105800
  • Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
    Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox
    Journal of Medical Genetics May 2015, 52 (5) 353-358; DOI: 10.1136/jmedgenet-2014-102797

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