Maria Dulce da Silva Quelhas
AuthID: R-00H-H5F
1
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
2
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
INDEXED IN: 
Scopus 
WOS
Scopus WOS3
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: Scopus
Scopus IN MY: 
ORCID
ORCID4
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
5
TITLE: SLC37A4-CDG: Second patient
AUTHORS: Wilson, MP; Quelhas, D; Leão Teles, E; Sturiale, L; Rymen, D; Keldermans, L; Race, V; Souche, E; Rodrigues, E; Campos, T; Van Schaftingen, E; Foulquier, F; Garozzo, D; Matthijs, G; Jaeken, J;
PUBLISHED: 2021, SOURCE: JIMD Reports, VOLUME: 58, ISSUE: 1
AUTHORS: Wilson, MP; Quelhas, D; Leão Teles, E; Sturiale, L; Rymen, D; Keldermans, L; Race, V; Souche, E; Rodrigues, E; Campos, T; Van Schaftingen, E; Foulquier, F; Garozzo, D; Matthijs, G; Jaeken, J;
PUBLISHED: 2021, SOURCE: JIMD Reports, VOLUME: 58, ISSUE: 1
6
TITLE: Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
AUTHORS: Rossignol, F; Moreno, MSD; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Diaz, JLD; D'Harlingue, A; Dimmock, D; Freeman, AF; Garcia, MT; Garganta, C; Goerge, T; Halbach, SS; de Laffolie, J; Lam, CT; Martin, L; Martins, E; ...More
PUBLISHED: 2021, SOURCE: GENETICS IN MEDICINE, VOLUME: 23, ISSUE: 9
AUTHORS: Rossignol, F; Moreno, MSD; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Diaz, JLD; D'Harlingue, A; Dimmock, D; Freeman, AF; Garcia, MT; Garganta, C; Goerge, T; Halbach, SS; de Laffolie, J; Lam, CT; Martin, L; Martins, E; ...More
PUBLISHED: 2021, SOURCE: GENETICS IN MEDICINE, VOLUME: 23, ISSUE: 9
7
TITLE: Genotype-Phenotype Correlations in PMM2-CDG
AUTHORS: Vaes, L; Rymen, D; Cassiman, D; Ligezka, A; Vanhoutvin, N; Quelhas, D; Morava, E; Witters, P;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 11
AUTHORS: Vaes, L; Rymen, D; Cassiman, D; Ligezka, A; Vanhoutvin, N; Quelhas, D; Morava, E; Witters, P;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 11
8
TITLE: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
AUTHORS: Anna Čechová; Tomáš Honzík; Andrew C Edmondson; Can Ficicioglu; Mercedes Serrano; Rita Barone; Pascale De Lonlay; Manuel Schiff; Peter Witters; Christina Lam; Marc Patterson; Mirian C H Janssen; Joana Correia; Dulce Quelhas; Jolanta Sykut Cegielska; Horacio Plotkin; Eva Morava; Kyriakie Sarafoglou;
PUBLISHED: 2021, SOURCE: Molecular Genetics and Metabolism, VOLUME: 133, ISSUE: 4
AUTHORS: Anna Čechová; Tomáš Honzík; Andrew C Edmondson; Can Ficicioglu; Mercedes Serrano; Rita Barone; Pascale De Lonlay; Manuel Schiff; Peter Witters; Christina Lam; Marc Patterson; Mirian C H Janssen; Joana Correia; Dulce Quelhas; Jolanta Sykut Cegielska; Horacio Plotkin; Eva Morava; Kyriakie Sarafoglou;
PUBLISHED: 2021, SOURCE: Molecular Genetics and Metabolism, VOLUME: 133, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID9
TITLE: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
AUTHORS: Anna Čechová; Tomáš Honzík; Andrew C Edmondson; Can Ficicioglu; Mercedes Serrano; Rita Barone; Pascale De Lonlay; Manuel Schiff; Peter Witters; Christina Lam; Marc Patterson; Mirian C.H Janssen; Joana Correia; Dulce Quelhas; Jolanta Sykut-Cegielska; Horacio Plotkin; Eva Morava; Kyriakie Sarafoglou;
PUBLISHED: 2021, SOURCE: Molecular Genetics and Metabolism, VOLUME: 133, ISSUE: 4
AUTHORS: Anna Čechová; Tomáš Honzík; Andrew C Edmondson; Can Ficicioglu; Mercedes Serrano; Rita Barone; Pascale De Lonlay; Manuel Schiff; Peter Witters; Christina Lam; Marc Patterson; Mirian C.H Janssen; Joana Correia; Dulce Quelhas; Jolanta Sykut-Cegielska; Horacio Plotkin; Eva Morava; Kyriakie Sarafoglou;
PUBLISHED: 2021, SOURCE: Molecular Genetics and Metabolism, VOLUME: 133, ISSUE: 4
10
TITLE: Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network Full Text
AUTHORS: Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; ...More
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
AUTHORS: Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; ...More
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
