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Disposable Passive Electrochemical Microfluidic Device for Diagnosis of Congenital Disorders of Glycosylation
Analysis & Sensing
◽
10.1002/anse.202100038
◽
2021
◽
Author(s):
Tania Sierra
◽
Charles S. Henry
◽
Agustín G. Crevillén
◽
Alberto Escarpa
Keyword(s):
Microfluidic Device
◽
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
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Cited By
References
Disposable Passive Electrochemical Microfluidic Device for Diagnosis of Congenital Disorders of Glycosylation
Analysis & Sensing
◽
10.1002/anse.202100059
◽
2021
◽
Author(s):
Tania Sierra
◽
Charles S. Henry
◽
Agustín G. Crevillén
◽
Alberto Escarpa
Keyword(s):
Microfluidic Device
◽
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
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
Download Full-text
Congenital disorders of glycosylation in children - histopathological and ultrastructural changes in the liver
Pediatrics & Neonatology
◽
10.1016/j.pedneo.2021.01.017
◽
2021
◽
Author(s):
Patryk Lipiński
◽
Joanna Cielecka-Kuszyk
◽
Elżbieta Czarnowska
◽
Anna Bogdańska
◽
Piotr Socha
◽
...
Keyword(s):
Ultrastructural Changes
◽
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?
Clinica Chimica Acta
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10.1016/j.cca.2021.04.013
◽
2021
◽
Vol 519
◽
pp. 92-93
Author(s):
Alexandre Raynor
◽
Célia Raulet-Bussian
◽
Léa Verel
◽
Grégory Plouviez
◽
Arnaud Bruneel
Keyword(s):
Capillary Zone Electrophoresis
◽
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
◽
Zone Electrophoresis
◽
Capillary Zone
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Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Clinica Chimica Acta
◽
10.1016/j.cca.2021.05.016
◽
2021
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Author(s):
Alexandre Raynor
◽
Catherine Vincent-Delorme
◽
Anne-Sophie Alaix
◽
Sophie Cholet
◽
Thierry Dupré
◽
...
Keyword(s):
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
◽
Apolipoprotein C
Download Full-text
Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms
Molecular Diagnosis & Therapy
◽
10.1007/bf03256251
◽
2007
◽
Vol 11
(5)
◽
pp. 303-311
◽
Cited By ~ 33
Author(s):
Dusica Babovic-Vuksanovic
◽
John F. O’Brien
Keyword(s):
Laboratory Diagnosis
◽
Congenital Disorders
◽
Type I
◽
Congenital Disorders Of Glycosylation
Download Full-text
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
Journal of Medical Genetics
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10.1136/jmg.37.8.579
◽
2000
◽
Vol 37
(8)
◽
pp. 579-580
◽
Cited By ~ 19
Author(s):
S. Vuillaumier-Barrot
Keyword(s):
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
Clinical cases about uncommon genotype of congenital disorders of glycosylation
European Journal of Paediatric Neurology
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10.1016/j.ejpn.2017.04.1051
◽
2017
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Vol 21
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pp. e139-e140
Author(s):
R. Calvo Medina
◽
A. Calvo-Cillan
◽
M. Sanchez Muñoz
◽
M. mantecon Barranco
◽
M.A. Aviles-tirado
◽
...
Keyword(s):
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
◽
Clinical Cases
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Other forms of congenital disorders of glycosylation
Atlas of Inherited Metabolic Diseases 3E
◽
10.1201/b15310-119
◽
2011
◽
pp. 787-802
◽
Cited By ~ 1
Keyword(s):
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
Congenital Disorders of Glycosylation
Handbook of Carbohydrate Engineering
◽
10.1201/9781420027631.ch4
◽
2005
◽
pp. 99-140
Author(s):
Jerzy Koscielak
Keyword(s):
Congenital Disorders
◽
Congenital Disorders Of Glycosylation
Download Full-text
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