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There are 17671 results for: content related to: DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

  1. 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

  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. 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

  4. 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

  5. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

    American Journal of Medical Genetics

    Volume 101, Issue 1, 1 June 2001, Pages: 46–49, Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg and Pascale Saugier-Veber

    Version of Record online : 27 APR 2001, DOI: 10.1002/ajmg.1298

  6. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2103–2108, Rita Barone, Luisa Sturiale, Vito Sofia, Antonella Ignoto, Agata Fiumara, Giovanni Sorge, Domenico Garozzo and Mario Zappia

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32446

  7. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 22–26, Liangwu Sun, Erik A. Eklund, Johan L.K. Van Hove, Hudson H. Freeze and Janet A. Thomas

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30831

  8. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

    Annals of Neurology

    Volume 47, Issue 6, June 2000, Pages: 776–781, S. Grünewald, T. Imbach, K. Huijben, M. E. Rubio-Gozalbo, A. Verrips, J. B. C. De Klerk, H. Stroink, J. F. De Rijk-Van Andel, J. L. K. Van Hove, U. Wendel, G. Matthijs, T. Hennet, J. Jaeken and R. A. Wevers

    Version of Record online : 9 MAY 2001, DOI: 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5

  9. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 851–860, Patricia Yuste-Checa, Alejandra Gámez, Sandra Brasil, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá and Belén Pérez

    Version of Record online : 23 JUL 2015, DOI: 10.1002/humu.22817

  10. 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

  11. CDG-Id in two siblings with partially different phenotypes

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1414–1420, Christian Kranz, Liangwu Sun, Erik A. Eklund, Donna Krasnewich, Janet R. Casey and Hudson H. Freeze

    Version of Record online : 5 JUN 2007, DOI: 10.1002/ajmg.a.31796

  12. CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 194–197, Michael Weinstein, Els Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian G. Frank, Markus Aebi, Joe T. R. Clarke, Anne Griffiths, Lorne Seargeant and Nicola Poplawski

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.a.30851

  13. Diagnosis of congenital disorders of glycosylation type-I using protein chip technology

    PROTEOMICS

    Volume 6, Issue 7, No. 7 April 2006, Pages: 2295–2304, Kevin Mills, Philippa Mills, Marie Jackson, Viki Worthington, Clare Beesley, Anúska Mann, Peter Clayton, Stephanie Grunewald, Geoffrey Keir, Liz Young, James Langridge, Nasi Mian and Bryan Winchester

    Version of Record online : 22 MAR 2006, DOI: 10.1002/pmic.200500682

  14. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1371–1378, Christian Kranz, Alice A. Basinger, Müge Güçsavaş-Çalıkoğlu, Liangwu Sun, Cynthia M. Powell, Frederick W. Henderson, Arthur S. Aylsworth and Hudson H. Freeze

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31791

  15. The skeletal manifestations of the congenital disorders of glycosylation

    Clinical Genetics

    Volume 73, Issue 6, June 2008, Pages: 507–515, D Coman, M Irving, P Kannu, J Jaeken and R Savarirayan

    Version of Record online : 7 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01015.x

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    Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

    Human Mutation

    Volume 30, Issue 12, December 2009, Pages: 1628–1641, Micha A. Haeuptle and Thierry Hennet

    Version of Record online : 27 OCT 2009, DOI: 10.1002/humu.21126

  17. RFT1 deficiency in three novel CDG patients

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: 1428–1434, Wendy Vleugels, Micha A. Haeuptle, Bobby G. Ng, Jean-Claude Michalski, Roberta Battini, Carlo Dionisi-Vici, Mark D. Ludman, Jaak Jaeken, François Foulquier, Hudson H. Freeze, Gert Matthijs and Thierry Hennet

    Version of Record online : 7 JUL 2009, DOI: 10.1002/humu.21085

  18. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 485–487, Christian Thiel, Nina Rind, Diana Popovici, Georg F. Hoffmann, Kristen Hanson, Robert L. Conway, Craig R. Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neophytos Apeshiotis, Charlotte Thiels, Gert Matthijs and Christian Körner

    Version of Record online : 31 JAN 2012, DOI: 10.1002/humu.22019

  19. Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 3, 15 August 2007, Pages: 302–306, Donna Krasnewich, Kevin O'Brien and Susan Sparks

    Version of Record online : 18 JUL 2007, DOI: 10.1002/ajmg.c.30143

  20. Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS

    PROTEOMICS

    Volume 8, Issue 18, No. 18 September 2008, Pages: 3822–3832, Luisa Sturiale, Rita Barone, Angelo Palmigiano, Célestin Nsibu Ndosimao, Paz Briones, Maciej Adamowicz, Jaak Jaeken and Domenico Garozzo

    Version of Record online : 19 AUG 2008, DOI: 10.1002/pmic.200700496