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Dulce Quelhas

4PUBLICATIONS

38CO-AUTHORS

GlycoconjugatesEpigenetics (incl. genome methylation and epigenomics)Isotope geochemistryNeurology and neuromuscular diseases

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Publications (4)

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|Jan 19, 2026

CDG due to Defective Membrane Transporters: Update.

D Quelhas, C R Ferreira, J Jaeken

|Apr 14, 2025

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Mar 23, 2022

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.

Rute Sousa Martins, Arlindo Guimas, Sara Rocha

|Sep 15, 2020

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho

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Frequent Collaborators

2 joint publications

Esmeralda Martins

1 joint publications

C R Ferreira

1 joint publications

Marisa Encarnação

1 joint publications

Maria Francisca Coutinho

1 joint publications

Soo Min Cho

1 joint publications

Maria Teresa Cardoso

1 joint publications

Isaura Ribeiro

1 joint publications

Paulo Chaves

1 joint publications

Juliana Inês Santos

1 joint publications

Lúcia Lacerda

Frequent Collaborators

2 joint publications

Esmeralda Martins

1 joint publications

C R Ferreira

1 joint publications

Marisa Encarnação

1 joint publications

Maria Francisca Coutinho

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