Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single org...

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Detalhes bibliográficos
Autor principal: Quelhas, D (author)
Outros Autores: Martins, E (author), Azevedo, L (author), Bandeira, A (author), Diogo, L (author), Garcia, P (author), Sequeira, S (author), Ferreira, AC (author), Teles, EL (author), Rodrigues, E (author), Fortuna, AM (author), Mendonça, C (author), Fernandes, HC (author), Medeira, A (author), Gaspar, A (author), Janeiro, P (author), Oliveira, A (author), Laranjeira, F (author), Ribeiro, I (author), Souche, E (author), Race, V (author), Keldermans, L (author), Matthijs, G (author), Jaeken, J (author)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
CDG
PMM2 genotype
Congenital disorder/glycosylation
Phenotype
Transferrin
HDE MTB
Texto completo:http://hdl.handle.net/10400.17/4292
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/4292

Texto Completo

http://hdl.handle.net/10400.17/4292

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