PMC Links for Books (Select 1470254) - PMC

Eva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al-Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Marjolein C. J. Jongmans, Jolanta Sykut-Cegielska, Georg F. Hoffmann, Peter Bluemel, Maciej Adamowicz, Jeroen van Reeuwijk, Bobby G. Ng, Jorieke E. H. Bergman, Hans van Bokhoven, Christian Körner, Dusica Babovic-Vuksanovic, Michel A. Willemsen, Joseph G. Gleeson, Ludwig Lehle, Arjan P. M. de Brouwer, Dirk J. Lefeber

Brain. 2010 Nov; 133(11): 3210–3220. Published online 2010 Sep 17. doi: 10.1093/brain/awq261

PMCID:: PMC6276930

Article PDF–369K

Select item 55095584.

DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion

C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman

JIMD Rep. 2017; 34: 27–32. Published online 2016 Aug 2. doi: 10.1007/8904_2016_7

PMCID:: PMC5509558

Article PDF–110K

Select item 49198495.

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré, S. E. H. Moore

Orphanet J Rare Dis. 2016; 11: 84. Published online 2016 Jun 24. doi: 10.1186/s13023-016-0468-1

PMCID:: PMC4919849

Article PDF–1.9M

Select item 49078236.

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs, Hudson H. Freeze

Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 653–660. Published online 2016 Mar 21. doi: 10.1002/humu.22983

PMCID:: PMC4907823

Article PDF–885K

Select item 48678467.

Further Delineation of the ALG9-CDG Phenotype

Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber, Fowzan S. Alkuraya, Brahim Tabarki

JIMD Rep. 2016; 27: 107–112. Published online 2015 Oct 10. doi: 10.1007/8904_2015_504

PMCID:: PMC4867846

Article PDF–264K

Select item 46239228.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez-Cerdá, Jaak Jaeken, Belén Pérez, Belén Pérez-Dueñas

Orphanet J Rare Dis. 2015; 10: 138. Published online 2015 Oct 26. doi: 10.1186/s13023-015-0358-y

PMCID:: PMC4623922

Article PDF–800K

Select item 46040529.

Expanding the molecular and clinical phenotype of SSR4-CDG

Bobby G. Ng, Kimiyo Raymond, Martin Kircher, Kati J. Buckingham, Tim Wood, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Jonathan T.S. Wong, Fabiola Paoli Monteiro, Brett H. Graham, Sheryl Jackson, Rebecca Sparkes, Angela E. Scheuerle, Sara Cathey, Fernando Kok, James B. Gibson, Hudson H. Freeze

Hum Mutat. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Hum Mutat. 2015 Nov; 36(11): 1048–1051. Published online 2015 Aug 27. doi: 10.1002/humu.22856

PMCID:: PMC4604052

Article PDF–927K

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 450435111.

ALG8-CDG: novel patients and review of the literature

Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J. Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall

Orphanet J Rare Dis. 2015; 10: 73. Published online 2015 Jun 12. doi: 10.1186/s13023-015-0289-7

PMCID:: PMC4504351

Article PDF–3.5M

Select item 429789312.

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

Jaak Jaeken, Dirk Lefeber, Gert Matthijs

Eur J Hum Genet. 2015 Feb; 23(2) Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.146

PMCID:: PMC4297893

Article PDF–163K

Select item 406641313.

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Dr. Mohammed A. Sadat, Dr. Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J. Memoli, Miao He, Hugo Vega, Leo J.Y. Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C. Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E. Marciano, Madhuri Hegde, Yuxing Li, Katherine R. Calvo, Jennifer Stoddard, J. Shawn Justement, Jerome Jacques, Debra A. Long Priel, Danielle Murray, Peter Sun, Douglas B. Kuhns, Cornelius F. Boerkoel, John A. Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, Sergio D. Rosenzweig

N Engl J Med. Author manuscript; available in PMC 2014 Oct 24.

Published in final edited form as: N Engl J Med. 2014 Apr 24; 370(17): 1615–1625. Published online 2014 Apr 9. doi: 10.1056/NEJMoa1302846

PMCID:: PMC4066413

Article PDF–815K

Select item 401698214.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen F. Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: J Allergy Clin Immunol. 2014 May; 133(5): 1400–1409.e5. Published online 2014 Feb 28. doi: 10.1016/j.jaci.2014.02.013

PMCID:: PMC4016982

Article PDF–1.7M

Select item 391731215.

CDG nomenclature: Time for a change!

Jaak Jaeken, Thierry Hennet, Gert Matthijs, Hudson H. Freeze

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Biochim Biophys Acta. 2009 Sep; 1792(9): 825–826. doi: 10.1016/j.bbadis.2009.08.005

PMCID:: PMC3917312

Article PDF–73K

Select item 390974316.

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Michelle T Lieu, Bobby G Ng, Jeffrey S Rush, Tim Wood, Monica J Basehore, Madhuri Hegde, Richard C Chang, Jose E Abdenur, Hudson H Freeze, Raymond Y Wang

Mol Genet Metab. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Mol Genet Metab. 2013 Dec; 110(4): 484–489. Published online 2013 Oct 4. doi: 10.1016/j.ymgme.2013.09.016

PMCID:: PMC3909743

Article PDF–401K

Select item 388813317.

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

Shiteshu Shrimal, Bobby G. Ng, Marie-Estelle Losfeld, Reid Gilmore, Hudson H. Freeze

Hum Mol Genet. 2013 Nov 15; 22(22): 4638–4645. Published online 2013 Jul 10. doi: 10.1093/hmg/ddt312

PMCID:: PMC3888133

Article PDF–536K

Select item 386940018.

RFT1 Deficiency in Three Novel CDG Patients

Wendy Vleugels, Micha A. Haeuptle, Bobby G. Ng, Jean-Claude Michalski, Roberta Battini, Carlo Dionisi-Vici, Mark D. Ludman, Jaak Jaeken, Franc-ois Foulquier, Hudson H. Freeze, Gert Matthijs, Thierry Hennet

Hum Mutat. Author manuscript; available in PMC 2013 Dec 20.

Published in final edited form as: Hum Mutat. 2009 Oct; 30(10): 10.1002/humu.21085. doi: 10.1002/humu.21085

PMCID:: PMC3869400

Article PDF–574K

Select item 386939719.

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

Bradley S. Miller, Hudson H. Freeze, Georg F. Hoffmann, Kyriakie Sarafoglou

Mol Genet Metab. Author manuscript; available in PMC 2013 Dec 20.

Published in final edited form as: Mol Genet Metab. 2011 May; 103(1): 10.1016/j.ymgme.2011.01.016. Published online 2011 Feb 3. doi: 10.1016/j.ymgme.2011.01.016

PMCID:: PMC3869397

Article PDF–72K

Select item 380026820.

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Amy C. Yang, Bobby G. Ng, Steven A. Moore, Jeffrey Rush, Charles J. Waechter, Kimiyo M. Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta

Mol Genet Metab. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 345–351. Published online 2013 Jun 28. doi: 10.1016/j.ymgme.2013.06.016

PMCID:: PMC3800268

Article PDF–919K

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