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Items: 1 to 20 of 475

1.
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates
Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, Fatma A. Al-Jasmi
Orphanet J Rare Dis. 2016; 11: 94. Published online 2016 Jul 8. doi: 10.1186/s13023-016-0474-3
PMCID:
PMC4939014
AbstractArticlePDF–477K
2.
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
AbstractArticlePDF–800K
3.
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209
PMCID:
PMC4654953
AbstractArticlePDF–689K
4.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Julien H. Park, Max Hogrebe, Marianne Grüneberg, Ingrid DuChesne, Ava L. von der Heiden, Janine Reunert, Karl P. Schlingmann, Kym M. Boycott, Chandree L. Beaulieu, Aziz A. Mhanni, A. Micheil Innes, Konstanze Hörtnagel, Saskia Biskup, Eva M. Gleixner, Gerhard Kurlemann, Barbara Fiedler, Heymut Omran, Frank Rutsch, Yoshinao Wada, Konstantinos Tsiakas, René Santer, Daniel W. Nebert, Stephan Rust, Thorsten Marquardt
Am J Hum Genet. 2015 Dec 3; 97(6): 894–903. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.11.003
PMCID:
PMC4678430
AbstractArticlePDF–2.3M
5.
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell
Biomolecules. 2015 Dec; 5(4): 2758–2781. Published online 2015 Oct 16. doi: 10.3390/biom5042758
PMCID:
PMC4693256
AbstractArticlePDF–12M
6.
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Emma Tham, Erik A Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner, Peter Lindgren, Anna Lindstrand, Anna Wedell, Margareta Albåge, Katarzyna Zielinska, Ann Nordgren, Nikos Papadogiannakis, Gen Nishimura, Giedre Grigelioniene
Eur J Hum Genet. 2016 Feb; 24(2): 198–207. Published online 2015 May 13. doi: 10.1038/ejhg.2015.91
PMCID:
PMC4717212
AbstractArticlePDF–2.6M
7.
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Megan S. Kane, Mariska Davids, Christopher Adams, Lynne A. Wolfe, Helen W. Cheung, Andrea Gropman, Yan Huang, NISC Comparative Sequencing Program, Bobby G. Ng, Hudson H. Freeze, David R. Adams, William A. Gahl, Cornelius F. Boerkoel
Am J Hum Genet. 2016 Feb 4; 98(2): 339–346. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.007
PMCID:
PMC4746335
AbstractArticlePDF–1.0M
8.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A.W. van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G. Holleboom, Richard J. Rodenburg, Joost P.H. Drenth, Martijn A. Huynen, Ron A. Wevers, Eva Morava, François Foulquier, Joris A. Veltman, Dirk J. Lefeber
Am J Hum Genet. 2016 Feb 4; 98(2): 322–330. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.011
PMCID:
PMC4746368
AbstractArticlePDF–2.8M
9.
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
Daniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, Shalini Jhangiani, Joep de Ligt, Frans P M Cremers, James R Lupski, Yoshiko Murakami, Bert B A de Vries
Eur J Hum Genet. 2015 Dec; 23(12): 1689–1693. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.42
PMCID:
PMC4795198
AbstractArticlePDF–839K
10.
Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation
Anne-Sophie Colinet, Palanivelu Sengottaiyan, Antoine Deschamps, Marie-Lise Colsoul, Louise Thines, Didier Demaegd, Marie-Clémence Duchêne, François Foulquier, Pascal Hols, Pierre Morsomme
Sci Rep. 2016; 6: 24282. Published online 2016 Apr 14. doi: 10.1038/srep24282
PMCID:
PMC4830978
AbstractArticlePDF–948K
11.
Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy
Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh
Am J Med Genet A. Author manuscript; available in PMC 2016 May 31.
Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 77–86. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37369
PMCID:
PMC4886552
AbstractArticlePDF–626K
12.
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
AbstractArticlePDF–885K
13.
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
AbstractArticlePDF–1.9M
14.
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
Guja Astrea, Ilaria Pezzini, Ester Picillo, Rosa Pasquariello, Francesca Moro, Manuela Ergoli, Paola D'Ambrosio, Adele D'Amico, Luisa Politano, Filippo Maria Santorelli
Neuromuscul Disord. 2016 Jul; 26(7): 459–461. doi: 10.1016/j.nmd.2016.05.003
PMCID:
PMC4925463
AbstractArticle
15.
SWATH-MS Glycoproteomics Reveals Consequences of Defects in the Glycosylation Machinery
Lucia F. Zacchi, Benjamin L. Schulz
Mol Cell Proteomics. 2016 Jul; 15(7): 2435–2447. Published online 2016 Apr 19. doi: 10.1074/mcp.M115.056366
PMCID:
PMC4937515
AbstractArticlePDF–2.0M
16.
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2
Giuseppina Andreotti, Maria Chiara Monti, Valentina Citro, Maria Vittoria Cubellis
PLoS One. 2015; 10(10): e0139882. Published online 2015 Oct 21. doi: 10.1371/journal.pone.0139882
PMCID:
PMC4619449
AbstractArticlePDF–2.0M
17.
CONGENITAL NEPHROTIC SYNDROME IN AN INFANT WITH ALG1-CONGENITAL DISORDER OF GLYCOSYLATION
L.A. Harshman, B.G. Ng, H.H. Freeze, P. Trapane, A. Dolzeal, P.D. Brophy, J.E. Brumbaugh
Pediatr Int. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Pediatr Int. 2016 Aug; 58(8): 785–788. Published online 2016 Jun 21. doi: 10.1111/ped.12988
PMCID:
PMC4996748
AbstractArticlePDF–492K
18.
Novel Metal Cation Resistance Systems from Mutant Fitness Analysis of Denitrifying Pseudomonas stutzeri
Brian J. Vaccaro, W. Andrew Lancaster, Michael P. Thorgersen, Grant M. Zane, Adam D. Younkin, Alexey E. Kazakov, Kelly M. Wetmore, Adam Deutschbauer, Adam P. Arkin, Pavel S. Novichkov, Judy D. Wall, Michael W. W. Adams
Appl Environ Microbiol. 2016 Oct 1; 82(19): 6046–6056. Prepublished online 2016 Jul 29. Published online 2016 Sep 16. doi: 10.1128/AEM.01845-16
PMCID:
PMC5038046
AbstractArticlePDF–1.2M
19.
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
Patricia G. Wheeler, Bobby G. Ng, Laura Sanford, V. Reid Sutton, Dennis W. Bartholomew, Matthew T. Pastore, Michael J. Bamshad, Martin Kircher, Kati J. Buckingham, Deborah A. Nickerson, Jay Shendure, Hudson H. Freeze
Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2016 Dec; 170(12): 3165–3171. Published online 2016 Aug 2. doi: 10.1002/ajmg.a.37875
PMCID:
PMC5115938
AbstractArticlePDF–273K
20.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y. Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G. Christoph Korenke, Brian H.Y. Chung, Christopher C.Y. Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gulen E. Utine, Peter K.C. Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A. Wevers
Am J Hum Genet. 2017 Feb 2; 100(2): 216–227. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.010
Correction in:
Am J Hum Genet. 2020 Aug 6; 107(2): 374.
PMCID:
PMC5294668
AbstractArticlePDF–2.6M

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