Literature DB >> 31656755

Improving biochemical markers for disorders of N-glycosylation.

Hudson H Freeze1.   

Abstract

Entities:  

Year:  2019        PMID： 31656755      PMCID： PMC6789335          DOI： 10.21037/atm.2019.07.79

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


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  5 in total

Review 1.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

Review 2.  The sweet spot for biologics: recent advances in characterization of biotherapeutic glycoproteins.

Authors:  Róisín O'Flaherty; Irena Trbojević-Akmačić; Gordon Greville; Pauline M Rudd; Gordan Lauc
Journal:  Expert Rev Proteomics       Date:  2017-11-22       Impact factor: 3.940

3.  Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.

Authors:  Jie Chen; Xueli Li; Andrew Edmondson; Gail Ditewig Meyers; Kosuke Izumi; Amanda M Ackermann; Eva Morava; Can Ficicioglu; Michael J Bennett; Miao He
Journal:  Clin Chem       Date:  2019-02-15       Impact factor: 8.327

Review 4.  Perspectives on Glycosylation and Its Congenital Disorders.

Authors:  Bobby G Ng; Hudson H Freeze
Journal:  Trends Genet       Date:  2018-03-29       Impact factor: 11.639

5.  Comparison of 2-Aminobenzamide, Procainamide and RapiFluor-MS as Derivatizing Agents for High-Throughput HILIC-UPLC-FLR-MS N-glycan Analysis.

Authors:  Toma Keser; Tamara Pavić; Gordan Lauc; Olga Gornik
Journal:  Front Chem       Date:  2018-07-26       Impact factor: 5.221
  5 in total
  2 in total

1.  Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

Authors:  Matthew P Wilson; Alejandro Garanto; Filippo Pinto E Vairo; Bobby G Ng; Wasantha K Ranatunga; Marina Ventouratou; Melissa Baerenfaenger; Karin Huijben; Christian Thiel; Angel Ashikov; Liesbeth Keldermans; Erika Souche; Sandrine Vuillaumier-Barrot; Thierry Dupré; Helen Michelakakis; Agata Fiumara; James Pitt; Susan M White; Sze Chern Lim; Lyndon Gallacher; Heidi Peters; Daisy Rymen; Peter Witters; Antonia Ribes; Blai Morales-Romero; Agustí Rodríguez-Palmero; Diana Ballhausen; Pascale de Lonlay; Rita Barone; Mirian C H Janssen; Jaak Jaeken; Hudson H Freeze; Gert Matthijs; Eva Morava; Dirk J Lefeber
Journal:  Am J Hum Genet       Date:  2021-10-14       Impact factor: 11.025

2.  Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.

Authors:  C A González-Domínguez; C E Villarroel; M Rodríguez-Morales; S Manrique-Hernández; A González-Jaimes; F Olvera-Rodriguez; K Beutelspacher; C Molina-Garay; K Carrillo-Sánchez; L L Flores-Lagunes; M Jiménez-Olivares; A Muñoz-Rivas; M E Cruz-Muñoz; H M Mora-Montes; R Salinas-Marín; C Alaez-Verson; I Martínez-Duncker
Journal:  Mol Genet Metab Rep       Date:  2021-07-02
  2 in total

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