Literature DB >> 28653174

Erratum to: What is new in CDG?

Jaak Jaeken1, Romain Péanne2.   

Abstract

Entities:  

Year:  2017        PMID： 28653174     DOI： 10.1007/s10545-017-0068-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

Authors:  Walinka van Tol; Angel Ashikov; Eckhard Korsch; Nurulamin Abu Bakar; Michèl A Willemsen; Christian Thiel; Dirk J Lefeber
Journal:  JIMD Rep       Date:  2019-09-30

2.  Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.

Authors:  Ines Van Hees; Jaak Jaeken; Wouter Meersseman; Ingele Casteels
Journal:  GMS Ophthalmol Cases       Date:  2019-11-20

3.  Prognostic Risk Signature and Comprehensive Analyses of Endoplasmic Reticulum Stress-Related Genes in Lung Adenocarcinoma.

Authors:  CaiZhen Yang; YuHui Wei; WenTao Li; JinMei Wei; GuoXing Chen; MingPeng Xu; GuangNan Liu
Journal:  J Immunol Res       Date:  2022-05-04       Impact factor: 4.818

4.  Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Authors:  Ana Paula Pereira Scholz de Magalhães; Maira Graeff Burin; Carolina Fischinger Moura de Souza; Fernanda Hendges de Bitencourt; Fernanda Medeiros Sebastião; Thiago Oliveira Silva; Filippo Pinto E Vairo; Ida Vanessa Doederlein Schwartz
Journal:  J Pediatr (Rio J)       Date:  2019-10-31       Impact factor: 2.990
  4 in total

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