Dulce Quelhas

4PUBLICATIONS
38CO-AUTHORS
GlycoconjugatesEpigenetics (incl. genome methylation and epigenomics)Isotope geochemistryNeurology and neuromuscular diseases
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Journal

Publications (4)

|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