Maria Dulce da Silva Quelhas
AuthID: R-00H-H5F
11
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
12
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
13
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
14
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
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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
16
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
17
TITLE: Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation Full Text
AUTHORS: Čechová, A; Altassan, R; Borgel, D; Bruneel, A; Correia, J; Girard, M; Harroche, A; Kiec Wilk, B; Mohnike, K; Pascreau, T; Pawliński, Ł; Radenkovic, S; Vuillaumier Barrot, S; Aldamiz Echevarria, L; Couce, ML; Martins, EG ; Quelhas, D; Morava, E; de Lonlay, P; Witters, P; ...More
PUBLISHED: 2020, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 43, ISSUE: 4
AUTHORS: Čechová, A; Altassan, R; Borgel, D; Bruneel, A; Correia, J; Girard, M; Harroche, A; Kiec Wilk, B; Mohnike, K; Pascreau, T; Pawliński, Ł; Radenkovic, S; Vuillaumier Barrot, S; Aldamiz Echevarria, L; Couce, ML; Martins, EG ; Quelhas, D; Morava, E; de Lonlay, P; Witters, P; ...More
PUBLISHED: 2020, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 43, ISSUE: 4
18
TITLE: Hyperinsulinaemic hypoglycaemia and polycystic kidney disease - A rare case concerning PMM2 gene pleiotropy
AUTHORS: Soares, AR; Figueiredo, CM; Quelhas, D; Silva, ES; Freitas, J; Oliveira, MJ; Faria, S; Fortuna, AM; Borges, T;
PUBLISHED: 2020, SOURCE: European Endocrinology, VOLUME: 16, ISSUE: 1
AUTHORS: Soares, AR; Figueiredo, CM; Quelhas, D; Silva, ES; Freitas, J; Oliveira, MJ; Faria, S; Fortuna, AM; Borges, T;
PUBLISHED: 2020, SOURCE: European Endocrinology, VOLUME: 16, ISSUE: 1
19
TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L ; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L ; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
20
TITLE: RFT1-CDG: Absence of epilepsy and deafness in two patients with novel pathogenic variants
AUTHORS: Quelhas, D; Jaeken, J; Fortuna, A; Azevedo, L ; Bandeira, A; Matthijs, G; Martins, E ;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 43
AUTHORS: Quelhas, D; Jaeken, J; Fortuna, A; Azevedo, L ; Bandeira, A; Matthijs, G; Martins, E ;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 43
