DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)

Els Schollen; Kevin Martens; Elke Geuzens; Gert Matthijs

doi:10.1038/sj.ejhg.5200858

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200858 ◽

2002 ◽

Vol 10 (10) ◽

pp. 643-648 ◽

Cited By ~ 23

Author(s):

Els Schollen ◽

Kevin Martens ◽

Elke Geuzens ◽

Gert Matthijs

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation ◽

Dhplc Analysis

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Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

Next Generation Sequencing ◽

10.1007/978-1-4614-7001-4_8 ◽

2013 ◽

pp. 151-165 ◽

Cited By ~ 1

Author(s):

Melanie Jones ◽

Madhuri Hegde

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Author response for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v2/response1 ◽

2019 ◽

Author(s):

C. Medrano ◽

A. Vega ◽

R. Navarrete ◽

M.J. Ecay ◽

R. Calvo ◽

...

Keyword(s):

Molecular Diagnosis ◽

Author Response ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Review for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v2/review1 ◽

2019 ◽

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Molecular Diagnosis of Congenital Disorders of Glycosylation

Experimental Glycoscience ◽

10.1007/978-4-431-77922-3_75 ◽

2009 ◽

pp. 319-322 ◽

Cited By ~ 2

Author(s):

Yoshinao Wada

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Review for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v1/review1 ◽

2018 ◽

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Clinical Genetics ◽

10.1111/cge.13508 ◽

2019 ◽

Vol 95 (5) ◽

pp. 615-626 ◽

Cited By ~ 11

Author(s):

Celia Medrano ◽

Ana Vega ◽

Rosa Navarrete ◽

M. Jesús Ecay ◽

Rocío Calvo ◽

...

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation ◽

Phosphomannomutase 2

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Decision letter for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v2/decision1 ◽

2019 ◽

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Decision letter for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v1/decision1 ◽

2018 ◽

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Review for "CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN"

10.1111/cge.13508/v1/review2 ◽

2018 ◽

Keyword(s):

Molecular Diagnosis ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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Faculty Opinions recommendation of Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717956777.793461365 ◽

2012 ◽

Author(s):

Jane Hewitt

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Gene Identification ◽

Congenital Disorders ◽

Type I ◽

Congenital Disorders Of Glycosylation ◽

Whole Exome

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