Molecular Genetics and Metabolism, 1096-7192

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  1. 2017
  2. Hospitalizations for mitochondrial disease across the lifespan in the U.S

    Shana E. McCormack, Rui Xiao, Todd J Kilbaugh, Michael Karlsson, Rebecca D. Ganetzky, Zarazuela Zolkipli Cunningham, Amy Goldstein, Marni J. Falk & Scott M. Damrauer, 2017, In: Molecular Genetics and Metabolism. 121, 2, p. 119-126

    Research output: Contribution to journalArticle

  3. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

    Robert J. Desnick, Norman W. Barton, Scott Furbish, Gregory A. Grabowski, Stefan Karlsson, Edwin H. Kolodny, Jeffrey A. Medin, Gary J. Murray, Pramod K. Mistry, Marc C. Patterson, Raphael Schiffmann & Neal J. Weinreb, 2017, In: Molecular Genetics and Metabolism. 120, 1-2, p. 1-7

    Research output: Contribution to journalArticle

  4. 2011
  5. A common variant near the PRL gene is associated with increased adiposity in males

    Louise Nilsson, Anders H Olsson, Bo Isomaa, Leif Groop, Hakan Billig & Charlotte Ling, 2011, In: Molecular Genetics and Metabolism. 102, 1, p. 78-81

    Research output: Contribution to journalArticle

  6. 2010
  7. Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

    Stuart Moat, Rachel Carling, Authur Nix, Michael Henderson, Anthony Briddon, Helen Prunty, Roy Talbot, Annette Powell, Katherine Wright, Sabine Fuchs & Tom de Koning, 2010 Oct 1, In: Molecular Genetics and Metabolism. 101, 2-3, p. 149-152 4 p.

    Research output: Contribution to journalArticle

  8. l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

    L. Tabatabaie, L. W. Klomp, R. Berger & T. J. de Koning, 2010 Mar 1, In: Molecular Genetics and Metabolism. 99, 3, p. 256-262

    Research output: Contribution to journalReview article

  9. 2009
  10. Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome

    Emna Mkaouar-Rebai, Imen Chamkha, Fatma Kammoun, Thouraya Kammoun, Hajer Aloulou, Mongia Hachicha, Chahnez Triki & Faiza Fakhfakh, 2009 Jul, In: Molecular Genetics and Metabolism. 97, 3, p. 179-84 6 p.

    Research output: Contribution to journalArticle

  11. Recommendations on the diagnosis and management of Niemann-Pick disease type C

    James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Håkan Widner, Frits A. Wijburg & Marc C. Patterson, 2009, In: Molecular Genetics and Metabolism. 98, 1-2, p. 152-165

    Research output: Contribution to journalDebate/Note/Editorial

  12. 2008
  13. A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population

    Caroline Brorsson, Regine Bergholdt, Marketa Sjögren, Stefanie Eising, Karina Meden Sorensen, David M. Hougaard, Marju Orho-Melander, Leif Groop & Flemming Pociot, 2008, In: Molecular Genetics and Metabolism. 94, 3, p. 386-388

    Research output: Contribution to journalArticle

  14. 2006
  15. Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

    H. Vlaardingerbroek, G. Hornstra, T. J. de Koning, J. A.M. Smeitink, H. D. Bakker, H. B.C. de Klerk & M. E. Rubio-Gozalbo, 2006 Jun 1, In: Molecular Genetics and Metabolism. 88, 2, p. 159-165 7 p.

    Research output: Contribution to journalArticle

  16. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

    S. Wortmann, R. J.T. Rodenburg, M. Huizing, F. J. Loupatty, T. de Koning, L. A.J. Kluijtmans, U. Engelke, R. Wevers, J. A.M. Smeitink & E. Morava, 2006 May 1, In: Molecular Genetics and Metabolism. 88, 1, p. 47-52 6 p.

    Research output: Contribution to journalArticle

  17. Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

    Takafumi Tsuchiya, Peter E. H. Schwarz, Laura del Bosque-Plata, M. Geoffrey Hayes, Christian Dina, Philippe Froguel, G. Wayne Towers, Sabine Fischer, Theodora Temelkova-Kurktschiev, Hannes Rietzsch, Juergen Graessler, Josef Vcelak, Daniela Palyzova, Thomas Selisko, Bela Bendlova, Jan Schulze, Ulrich Julius, Markolf Hanefeld, Michael N. Weedon, Julie C. Evans & 12 others, Timothy M. Frayling, Andrew T. Hattersley, Marju Orho-Melander, Leif Groop, Maciej T. Malecki, Torben Hansen, Oluf Pedersen, Tasha E. Fingerlin, Michael Boehnke, Craig L. Hanis, Nancy J. Cox & Graeme I. Bell, 2006, In: Molecular Genetics and Metabolism. 89, 1-2, p. 174-184

    Research output: Contribution to journalArticle

  18. Comparison of plasma and urinary levels of 2-hydroxyestrogen and 16 alpha-hydroxyestrogen metabolites

    HL Bradlow, Helena Jernström, DW Sepkovic, TL Klug & SA Narod, 2006, In: Molecular Genetics and Metabolism. 87, 2, p. 135-146

    Research output: Contribution to journalArticle

  19. 2005
  20. D-Amino acids in the central nervous system in health and disease

    Sabine A. Fuchs, Ruud Berger, Leo W.J. Klomp & Tom J. De Koning, 2005 Jan 1, In: Molecular Genetics and Metabolism. 85, 3, p. 168-180 13 p.

    Research output: Contribution to journalReview article

  21. Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

    P Ghandil, C Chelala, D Dubois-Laforgue, V Senee, S Caillat-Zucman, I Kockum, Holger Luthman, J Nerup, F Pociot, J Timsit & C Julier, 2005, In: Molecular Genetics and Metabolism. 86, 3, p. 379-383

    Research output: Contribution to journalArticle

  22. 2001
  23. CYP gene polymorphisms and early menarche

    Joe Lai, Danny Vesprini, William Chu, Helena Jernström & Steven A. Narod, 2001, In: Molecular Genetics and Metabolism. 74, 4, p. 449-457

    Research output: Contribution to journalArticle

  24. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk

    Helena Jernström, William Chu, Danny Vesprini, Yuzhen Tao, Noreen Majeed, Cheri Deal, Michael Pollak & Steven A. Narod, 2001, In: Molecular Genetics and Metabolism. 72, 2, p. 144-154

    Research output: Contribution to journalArticle