Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience-Reference-Cited by-同舟云学术

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Published:2021-04 Issue: Volume:231 Page:148-156
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Quelhas Dulce,Martins Esmeralda,Azevedo Luísa,Bandeira Anabela,Diogo Luísa,Garcia Paula,Sequeira Sílvia,Ferreira Ana Cristina,Teles Elisa Leão,Rodrigues Esmeralda,Fortuna Ana Maria,Mendonça Carla,Fernandes Helena Cabral,Medeira Ana,Gaspar Ana,Janeiro Patrícia,Oliveira Anabela,Laranjeira Francisco,Ribeiro Isaura,Souche Erica,Race Valérie,Keldermans Liesbeth,Matthijs Gert,Jaeken Jaak

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference42 articles.

1. Biological roles of oligosaccharides: all of the theories are correct;Varki;Glycobiology,1993

2. Congenital disorders of glycosylation (CDG): quo vadis ?;Péanne;Eur J Med Genet,2018

3. Clinical , laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase2-congenital disorder of glycosylation) and review of the literature;Schiff;J Med Genet,2017

4. Recognizable phenotypes in CDG;Ferreira;J Inherit Metab Dis,2018

5. The challenge of CDG diagnosis;Francisco;Mol Genet Metab,2019

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3. Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association;Journal of Inherited Metabolic Disease;2023-01-29

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