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There are 2516 results for: content related to: Enchondromatosis revisited: New classification with molecular basis

  1. D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

    Annals of Neurology

    Volume 45, Issue 1, January 1999, Pages: 111–119, M. S. Van Der Knaap, C. Jakobs, G. F. Hoffmann, W. L. Nyhan, W. O. Renier, J. A. M. Smeitink, C. E. Catsman-Berrevoets, O. Hjalmarson, H. Vallance, K. Sugita, C. M. Bowe, J. T. Herrin, W. J. Craigen, N. R. M. Buist, D. S. K. Brookfield and R. A. Chalmers

    Article first published online : 31 MAY 2001, DOI: 10.1002/1531-8249(199901)45:1<111::AID-ART17>3.0.CO;2-N

  2. D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 4, 1 August 2003, Pages: 523–527, Nigel F. Clarke, Ian Andrews, Kevin Carpenter, Cornelis Jakobs, Marjo S. van der Knaap and Edwin P. Kirk

    Article first published online : 1 APR 2003, DOI: 10.1002/ajmg.a.20120

  3. Autosomal dominant inheritance of spondyloenchondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 282–288, R. Bhargava, N.J. Leonard, A.K.J. Chan and J. Spranger

    Article first published online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30732

  4. Facial anomalies in D-2-hydroxyglutaric aciduria

    American Journal of Medical Genetics

    Volume 86, Issue 2, 10 September 1999, Pages: 124–129, Jeanne Amiel, Pascale de Lonlay, Christine Francannet, Alain Picard, Henri Bruel, Daniel Rabier, Martine Le Merrer, Nanda Verhoeven, Cornelis Jakobs, Stanislas Lyonnet and Arnold Munnich

    Article first published online : 13 AUG 1999, DOI: 10.1002/(SICI)1096-8628(19990910)86:2<124::AID-AJMG7>3.0.CO;2-Q

  5. L-2-Hydroxyglutaric Aciduria in Staffordshire Bull Terriers

    Journal of Veterinary Internal Medicine

    Volume 17, Issue 4, July 2003, Pages: 551–556, Carley J. Abramson, Simon R. Platt, Cornelis Jakobs, Nanda M. Verhoeven, Ruth Dennis, Laurent Garosi and G. Diane Shelton

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1939-1676.2003.tb02477.x

  6. A new method for the chiral HRGC assay of L-2-hydroxyglutaric acid in urine

    Journal of High Resolution Chromatography

    Volume 19, Issue 3, March 1996, Pages: 161–164, Higuinaldo J. Chaves das Neves, João Paulo Noronha and Helena Rufino

    Article first published online : 11 APR 2005, DOI: 10.1002/jhrc.1240190308

  7. Spondyloenchondrodysplasia: Clinical variability in three cases

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 185–189, Beyhan Tüysüz, Müjde Arapoglu and Savaş Üngür

    Article first published online : 21 APR 2004, DOI: 10.1002/ajmg.a.30078

  8. You have free access to this content
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: 380–390, Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Baric, Matthias Baumann, Luisa Bonafé, Brigitte Chabrol, Joe T.R. Clarke, Peter Clayton, Mahmut Coker, Sarah Cooper, Tzipora Falik-Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoglu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan Meldgaard Lund, Vlatka Mejaški-Bošnjak, Ignacio Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, Maria L. Ruiz-Falco, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo-Martinez, Mohnish Suri, Jolanta Sykut-Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey-Saban, Stefan Vlaho, Julia Vodopiutz, Moacir Wajner, John Walter, Claudia Walter-Derbort, Zuhal Yapici, Dimitrios I. Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap and Gajja S. Salomons

    Article first published online : 5 JAN 2010, DOI: 10.1002/humu.21197

  9. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

    The Journal of Pathology

    Volume 224, Issue 3, July 2011, Pages: 334–343, M Fernanda Amary, Krisztian Bacsi, Francesca Maggiani, Stephen Damato, Dina Halai, Fitim Berisha, Robin Pollock, Paul O'Donnell, Anita Grigoriadis, Tim Diss, Malihe Eskandarpour, Nadège Presneau, Pancras CW Hogendoorn, Andrew Futreal, Roberto Tirabosco and Adrienne M Flanagan

    Article first published online : 19 MAY 2011, DOI: 10.1002/path.2913

  10. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 6, 15 March 2006, Pages: 541–550, Raffaele Renella, Elke Schaefer, Martine LeMerrer, Yasemin Alanay, Nurgun Kandemir, Georg Eich, Teresa Costa, Diana Ballhausen, Eugen Boltshauser, Luisa Bonafé, Andres Giedion, Sheila Unger and Andrea Superti-Furga

    Article first published online : 7 FEB 2006, DOI: 10.1002/ajmg.a.31081

  11. Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine

    Biomedical Chromatography

    Volume 14, Issue 5, August 2000, Pages: 317–320, Mohamed S. Rashed, Mohamed AlAmoudi and Hassan Y. Aboul-Enein

    Article first published online : 3 AUG 2000, DOI: 10.1002/1099-0801(200008)14:5<317::AID-BMC989>3.0.CO;2-V

  12. Absolute stereochemistry of 2-hydroxyglutaric acid present in methanopterin

    Chirality

    Volume 9, Issue 7, 1997, Pages: 678–680, Barbara Thurston Solow and Robert H. White

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1520-636X(1997)9:7<678::AID-CHIR7>3.0.CO;2-3

  13. The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in β-ketothiolase deficiency

    Biological Mass Spectrometry

    Volume 10, Issue 4, April 1983, Pages: 253–257, R. J. Pollitt

    Article first published online : 13 APR 2005, DOI: 10.1002/bms.1200100403

  14. You have free access to this content
    Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

    Human Mutation

    Volume 26, Issue 4, October 2005, Pages: 395–396, L. Vilarinho, M.L. Cardoso, P. Gaspar, C. Barbot, L. Azevedo, L. Diogo, M. Santos, I. Carrilho, I. Fineza, F. Kok, R. Chorão, P. Alegria, E. Martins, J. Teixeira, H. Cabral Fernandes, N.M. Verhoeven, G.S. Salomons, F.M. Santorelli, P. Cabral, A. Amorim and C. Jakobs

    Article first published online : 30 AUG 2005, DOI: 10.1002/humu.9373

  15. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain

    Journal of Neuroscience Research

    Volume 74, Issue 1, 1 October 2003, Pages: 103–110, Alexandra Latini, Karina Scussiato, Rafael Borba Rosa, Guilhian Leipnitz, Susana Llesuy, Adriane Belló-Klein, Carlos Severo Dutra-Filho and Moacir Wajner

    Article first published online : 11 AUG 2003, DOI: 10.1002/jnr.10735

  16. D-2-hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats

    European Journal of Neuroscience

    Volume 17, Issue 10, May 2003, Pages: 2017–2022, Alexandra Latini, Karina Scussiato, Rafael Borba Rosa, Susana Llesuy, Adriane Belló-Klein, Carlos Severo Dutra-Filho and Moacir Wajner

    Article first published online : 29 MAY 2003, DOI: 10.1046/j.1460-9568.2003.02639.x

  17. Investigations into the Phenolic Constituents of Dog's Mercury (Mercurialis perennis L.) by LC-MS/MS and GC-MS analyses

    Phytochemical Analysis

    Volume 23, Issue 1, January/February 2012, Pages: 60–71, Peter Lorenz, Jürgen Conrad, Julia Bertrams, Melanie Berger, Sarina Duckstein, Ulrich Meyer and Florian C. Stintzing

    Article first published online : 21 JUN 2011, DOI: 10.1002/pca.1325

  18. NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria

    European Journal of Neuroscience

    Volume 16, Issue 1, July 2002, Pages: 21–28, Stefan Kölker, Verena Pawlak, Barbara Ahlemeyer, Jürgen G. Okun, Friederike Hörster, Ertan Mayatepek, Josef Krieglstein, Georg F. Hoffmann and Georg Köhr

    Article first published online : 11 JUL 2002, DOI: 10.1046/j.1460-9568.2002.02055.x

  19. D-2-Hydroxyglutaric acid inhibits creatine kinase activity from cardiac and skeletal muscle of young rats

    European Journal of Clinical Investigation

    Volume 33, Issue 10, October 2003, Pages: 840–847, C. G. Da Silva, A. R. F. Bueno, P. F. Schuck, G. Leipnitz, C. A. J. Ribeiro, C. M. D. Wannmacher, A. T. S. Wyse and M. Wajner

    Article first published online : 19 SEP 2003, DOI: 10.1046/j.1365-2362.2003.01237.x

  20. D-2-Hydroxyglutaric aciduria and subdural haemorrhage

    Acta Paediatrica

    Volume 91, Issue 6, June 2002, Pages: 716–718, KL Kwong, T Mak, CM Fong, KH Poon, SN Wong and KT So

    Article first published online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2002.tb03309.x