Literature DB >> 15105360

Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms.

Anders Helander1, Jonas Bergström, Hudson H Freeze.   

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Year:  2004        PMID： 15105360     DOI： 10.1373/clinchem.2003.029629

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  8 in total

1.  Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Authors:  Mariella T Simon; Bobby G Ng; Marisa W Friederich; Raymond Y Wang; Monica Boyer; Martin Kircher; Renata Collard; Kati J Buckingham; Richard Chang; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Johan L K Van Hove; Hudson H Freeze; Jose E Abdenur
Journal:  Mitochondrion       Date:  2017-02-12       Impact factor: 4.160

2.  Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.

Authors:  Mihika B Dave; Alpa J Dherai; Vrajesh P Udani; Anaita U Hegde; Neelu A Desai; Tester F Ashavaid
Journal:  J Clin Lab Anal       Date:  2017-02-25       Impact factor: 2.352

3.  Leukocyte Phosphomannomutase and Phosphomannose Isomerase Activity in an Indian Cohort.

Authors:  Mihika B Dave; Alpa J Dherai; Vrajesh P Udani; Tester F Ashavaid
Journal:  Indian J Clin Biochem       Date:  2020-11-17

Review 4.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Authors:  Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík
Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

Review 5.  The congenital disorders of glycosylation: a multifaceted group of syndromes.

Authors:  Erik A Eklund; Hudson H Freeze
Journal:  NeuroRx       Date:  2006-04

6.  Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease.

Authors:  Andreas J Hülsmeier; Micha Tobler; Patricie Burda; Thierry Hennet
Journal:  Sci Rep       Date:  2016-10-11       Impact factor: 4.379

Review 7.  The sweet and sour of serological glycoprotein tumor biomarker quantification.

Authors:  Uros Kuzmanov; Hari Kosanam; Eleftherios P Diamandis
Journal:  BMC Med       Date:  2013-02-07       Impact factor: 8.775

8.  Diagnostic sensitivity of carbohydrate deficient transferrin in heavy drinkers.

Authors:  Kevin J Fagan; Katharine M Irvine; Brett C McWhinney; Linda M Fletcher; Leigh U Horsfall; Lambro Johnson; Peter O'Rourke; Jennifer Martin; Ian Scott; Carel J Pretorius; Jacobus P J Ungerer; Elizabeth E Powell
Journal:  BMC Gastroenterol       Date:  2014-05-22       Impact factor: 3.067
  8 in total

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