Maria Dulce da Silva Quelhas
AuthID: R-00H-H5F
1
TITLE: CDG due to Defective Membrane Transporters: Update Full Text
AUTHORS: Quelhas, D.; Ferreira, C. R.; Jaeken, J.;
PUBLISHED: 2026, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 49, ISSUE: 1
AUTHORS: Quelhas, D.; Ferreira, C. R.; Jaeken, J.;
PUBLISHED: 2026, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 49, ISSUE: 1
2
TITLE: The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect Full Text
AUTHORS: Ana Paula Alegretti; Tatiane Hammerschmidt; Isaura Ribeiro; Dulce Quelhas; Márcia Polese-Bonatto; Maria Luiza Saraiva-Pereira; Esmeralda Martins; Roberto Giugliani; Marisa Encarnação; Sandra Alves; Carmen Regla Vargas;
PUBLISHED: 2026, SOURCE: Molecular Genetics and Metabolism
AUTHORS: Ana Paula Alegretti; Tatiane Hammerschmidt; Isaura Ribeiro; Dulce Quelhas; Márcia Polese-Bonatto; Maria Luiza Saraiva-Pereira; Esmeralda Martins; Roberto Giugliani; Marisa Encarnação; Sandra Alves; Carmen Regla Vargas;
PUBLISHED: 2026, SOURCE: Molecular Genetics and Metabolism
3
TITLE: A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses Full Text
AUTHORS: Oliveira, Tiago; Ferraz, Ricardo; Azevedo, Luisa; Quelhas, Dulce; Carneiro, Joao ; Jaeken, Jaak; Sérgio F. Sousa ;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
AUTHORS: Oliveira, Tiago; Ferraz, Ricardo; Azevedo, Luisa; Quelhas, Dulce; Carneiro, Joao ; Jaeken, Jaak; Sérgio F. Sousa ;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
4
TITLE: Natural history of three late-diagnosed classic Galactosemia patients
AUTHORS: Quelhas, Dulce; Kingma, Sandra D. K.; Jonckheere, An I.; Smeets Peels, Claudia S.; Gomes, Daniel Costa; Duro, Jose; Oliveira, Anabela; Matthijs, Gert; Steinbusch, Laura K. M.; Jaeken, Jaak; Rivera, Isabel; Rubio Gozalbo, Estela;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 38
AUTHORS: Quelhas, Dulce; Kingma, Sandra D. K.; Jonckheere, An I.; Smeets Peels, Claudia S.; Gomes, Daniel Costa; Duro, Jose; Oliveira, Anabela; Matthijs, Gert; Steinbusch, Laura K. M.; Jaeken, Jaak; Rivera, Isabel; Rubio Gozalbo, Estela;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 38
5
TITLE: Treatment of congenital disorders of glycosylation: An overview Full Text
AUTHORS: Quelhas, Dulce; Jaeken, Jaak;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 143, ISSUE: 1-2
AUTHORS: Quelhas, Dulce; Jaeken, Jaak;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 143, ISSUE: 1-2
6
TITLE: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Full Text
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024, ISSUE: 1
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024, ISSUE: 1
7
TITLE: Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease Full Text
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura ; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura ; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
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TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
AUTHORS: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
INDEXED IN: 
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ORCID
ORCID9
TITLE: Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients
AUTHORS: Jorge Diogo Da Silva; Isaura Ribeiro; Carla Caseiro; Eugénia Pinto; Sónia Rocha; Helena Ribeiro; Célia Ferreira; Elisabete Silva; Francisco Laranjeira ; Nataliya Tkachenko; Lúcia Lacerda; Dulce Quelhas;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
AUTHORS: Jorge Diogo Da Silva; Isaura Ribeiro; Carla Caseiro; Eugénia Pinto; Sónia Rocha; Helena Ribeiro; Célia Ferreira; Elisabete Silva; Francisco Laranjeira ; Nataliya Tkachenko; Lúcia Lacerda; Dulce Quelhas;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
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TITLE: Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
AUTHORS: Martins, RS; Guimas, A; Rocha, S; Ribeiro, R; Martins, E; Almeida, M; Quelhas, D;
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL CASES, VOLUME: 13, ISSUE: 2
AUTHORS: Martins, RS; Guimas, A; Rocha, S; Ribeiro, R; Martins, E; Almeida, M; Quelhas, D;
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL CASES, VOLUME: 13, ISSUE: 2
