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There are 9096 results for: content related to: Wrinkled Skin and Fat Pads in Patients with ALG 8-CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation

  1. Perinatal and early infantile symptoms in congenital disorders of glycosylation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 578–584, Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, Miski Mohamed, Saskia B. Wortmann, Eckhard Korsch, Maciej Adamowicz, Lihadh Al-Gazali, Ron A. Wevers, Adrienne Horvath, Dirk J. Lefeber and Éva Morava

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35702

  2. Congenital disorders of glycosylation and intellectual disability

    Developmental Disabilities Research Reviews

    Volume 17, Issue 3, June 2013, Pages: 211–225, Lynne A. Wolfe and Donna Krasnewich

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ddrr.1115

  3. Congenital disorders of glycosylation

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 190–198, Jaak Jaeken

    Version of Record online : 22 DEC 2010, DOI: 10.1111/j.1749-6632.2010.05840.x

  4. Stability and Dynamics of Cyclic Diguanylic Acid in Solution

    ChemPhysChem

    Volume 12, Issue 2, February 7, 2011, Pages: 295–302, Lixian Zhang and Prof. Dr. Markus Meuwly

    Version of Record online : 14 JAN 2011, DOI: 10.1002/cphc.201000692

  5. MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis

    PROTEOMICS - Clinical Applications

    Volume 9, Issue 7-8, August 2015, Pages: 787–793, Stéphanie Yen-Nicolaÿ, Céline Boursier, Marlène Rio, Dirk J. Lefeber, Antoine Pilon, Nathalie Seta and Arnaud Bruneel

    Version of Record online : 24 MAR 2015, DOI: 10.1002/prca.201400187

  6. Mass spectrometry in the characterization of human genetic N-glycosylation defects

    Mass Spectrometry Reviews

    Volume 28, Issue 3, May/June 2009, Pages: 517–542, Rita Barone, Luisa Sturiale and Domenico Garozzo

    Version of Record online : 9 OCT 2008, DOI: 10.1002/mas.20201

  7. Arbuscular mycorrhizal fungi native from a Mediterranean saline area enhance maize tolerance to salinity through improved ion homeostasis

    Plant, Cell & Environment

    Volume 36, Issue 10, October 2013, Pages: 1771–1782, BEATRIZ ESTRADA, RICARDO AROCA, FRANS J. M. MAATHUIS, JOSÉ MIGUEL BAREA and JUAN MANUEL RUIZ-LOZANO

    Version of Record online : 14 MAR 2013, DOI: 10.1111/pce.12082

  8. You have free access to this content
    A maternal cafeteria diet during gestation and lactation promotes adiposity and impairs skeletal muscle development and metabolism in rat offspring at weaning

    The Journal of Physiology

    Volume 567, Issue 3, September 2005, Pages: 951–961, Stéphanie A. Bayol, Bigboy H. Simbi and Neil C. Stickland

    Version of Record online : 12 SEP 2005, DOI: 10.1113/jphysiol.2005.088989

  9. Experimental determination of fire heat release rate with OC and CDG calorimetry for ventilated compartments fire scenario

    Fire and Materials

    Volume 38, Issue 4, June 2014, Pages: 474–506, H. Pretrel, W. Le Saux and L. Audouin

    Version of Record online : 4 JUL 2013, DOI: 10.1002/fam.2193

  10. Glycosylation Analysis for Congenital Disorders of Glycosylation

    Unit

    Current Protocols in Human Genetics

    17:17.18.1–17.18.22

    Xueli Li, Mohd A. Raihan, Francis Jeshira Reynoso and Miao He

    Published Online : 1 JUL 2015, DOI: 10.1002/0471142905.hg1718s86

  11. 4′-modified nucleoside analogs: Potent inhibitors active against entecavir-resistant hepatitis B virus

    Hepatology

    Volume 62, Issue 4, October 2015, Pages: 1024–1036, Yuki Takamatsu, Yasuhito Tanaka, Satoru Kohgo, Shuko Murakami, Kamalendra Singh, Debananda Das, David J. Venzon, Masayuki Amano, Nobuyo Higashi-Kuwata, Manabu Aoki, Nicole S. Delino, Sanae Hayashi, Satoru Takahashi, Yoshikazu Sukenaga, Kazuhiro Haraguchi, Stefan G. Sarafianos, Kenji Maeda and Hiroaki Mitsuya

    Version of Record online : 25 AUG 2015, DOI: 10.1002/hep.27962

  12. You have full text access to this OnlineOpen article
    Fluorogenic Probes with Substitutions at the 2 and 7 Positions of Cephalosporin are Highly BlaC-Specific for Rapid Mycobacterium tuberculosis Detection

    Angewandte Chemie

    Volume 126, Issue 35, August 25, 2014, Pages: 9514–9518, Dr. Yunfeng Cheng, Dr. Hexin Xie, Dr. Preeti Sule, Dr. Hany Hassounah, Prof. Edward A. Graviss, Prof. Ying Kong, Prof. Jeffrey D. Cirillo and Prof. Jianghong Rao

    Version of Record online : 2 JUL 2014, DOI: 10.1002/ange.201405243

  13. You have full text access to this OnlineOpen article
    Fluorogenic Probes with Substitutions at the 2 and 7 Positions of Cephalosporin are Highly BlaC-Specific for Rapid Mycobacterium tuberculosis Detection

    Angewandte Chemie International Edition

    Volume 53, Issue 35, August 25, 2014, Pages: 9360–9364, Dr. Yunfeng Cheng, Dr. Hexin Xie, Dr. Preeti Sule, Dr. Hany Hassounah, Prof. Edward A. Graviss, Prof. Ying Kong, Prof. Jeffrey D. Cirillo and Prof. Jianghong Rao

    Version of Record online : 2 JUL 2014, DOI: 10.1002/anie.201405243

  14. Inherited Disorders of Glycosylation

    Standard Article

    eLS

    Susan E Sparks

    Published Online : 28 SEP 2007, DOI: 10.1002/9780470015902.a0020230

  15. ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2748–2754, Laureline Lepais, David Cheillan, Sophie Collardeau Frachon, Stéphane Hays, Gert Matthijs, Eleni Panagiotakaki, Carine Abel, Patrick Edery and Massimiliano Rossi

    Version of Record online : 30 JUN 2015, DOI: 10.1002/ajmg.a.37232

  16. Blood donors' helping behavior is driven by warm glow: more evidence for the blood donor benevolence hypothesis

    Transfusion

    Volume 52, Issue 10, October 2012, Pages: 2189–2200, Eamonn Ferguson, Michael Taylor, David Keatley, Niall Flynn and Claire Lawrence

    Version of Record online : 10 FEB 2012, DOI: 10.1111/j.1537-2995.2011.03557.x

  17. Solution-Processed Ultrathin Chemically Derived Graphene Films as Soft Top Contacts for Solid-State Molecular Electronic Junctions

    Advanced Materials

    Volume 24, Issue 10, March 8, 2012, Pages: 1333–1339, Tao Li, Jonas Rahlf Hauptmann, Zhongming Wei, Søren Petersen, Nicolas Bovet, Tom Vosch, Jesper Nygård, Wenping Hu, Yunqi Liu, Thomas Bjørnholm, Kasper Nørgaard and Bo W. Laursen

    Version of Record online : 6 FEB 2012, DOI: 10.1002/adma.201104550

  18. You have free access to this content
    Deficiency of the Cog8 Subunit in Normal and CDG-Derived Cells Impairs the Assembly of the COG and Golgi SNARE Complexes

    Traffic

    Volume 14, Issue 10, October 2013, Pages: 1065–1077, Orly Laufman, Hudson H. Freeze, Wanjin Hong and Sima Lev

    Version of Record online : 31 JUL 2013, DOI: 10.1111/tra.12093

  19. A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 2029–2034, F.A. McKenzie, M. Fietz, J. Fletcher, R.L.L. Smith, I.M.R. Wright and J. Jaeken

    Version of Record online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31867

  20. DPM2-CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

    Annals of Neurology

    Volume 72, Issue 4, October 2012, Pages: 550–558, Rita Barone, Chiara Aiello, Valérie Race, Eva Morava, Francois Foulquier, Moniek Riemersma, Chiara Passarelli, Daniela Concolino, Massimo Carella, Filippo Santorelli, Wendy Vleugels, Eugenio Mercuri, Domenico Garozzo, Luisa Sturiale, Sonia Messina, Jaak Jaeken, Agata Fiumara, Ron A. Wevers, Enrico Bertini, Gert Matthijs and Dirk J. Lefeber

    Version of Record online : 29 OCT 2012, DOI: 10.1002/ana.23632