Maria Dulce da Silva Quelhas
AuthID: R-00H-H5F
31
TITLE: Relevance of expanded neonatal screening of medium-chain Acyl Co-A dehydrogenase deficiency: Outcome of a decade in Galicia (Spain) Full Text
AUTHORS: Couce, ML; Castineiras, DE; Moure, JD; Cocho, JA; Sanchez Pintos, P; Fraga, JM; Garcia Villoria, J; Ribes, A; Quelhas, D; Gregersen, N; Andresen, BS; Andresen, BS;
PUBLISHED: 2011, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 1
AUTHORS: Couce, ML; Castineiras, DE; Moure, JD; Cocho, JA; Sanchez Pintos, P; Fraga, JM; Garcia Villoria, J; Ribes, A; Quelhas, D; Gregersen, N; Andresen, BS; Andresen, BS;
PUBLISHED: 2011, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 1
32
TITLE: The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: Identification of 15 population-specific mutations
AUTHORS: Perez, B; Vega, AI; Ecay, MJ; Ugarte, M; Perez Cerda, C; Perez, B; Vega, AI; Ecay, MJ; Ugarte, M; Perez Cerda, C; Briones, P; Briones, P; Briones, P; Quelhas, D; Artuch, R; Artuch, R; Quintana, E; Gort, L; Quintana, E; Gort, L; ...More
PUBLISHED: 2011, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 1
AUTHORS: Perez, B; Vega, AI; Ecay, MJ; Ugarte, M; Perez Cerda, C; Perez, B; Vega, AI; Ecay, MJ; Ugarte, M; Perez Cerda, C; Briones, P; Briones, P; Briones, P; Quelhas, D; Artuch, R; Artuch, R; Quintana, E; Gort, L; Quintana, E; Gort, L; ...More
PUBLISHED: 2011, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 1
INDEXED IN: 
Scopus
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ORCID
ORCID33
TITLE: The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
AUTHORS: Pérez, B; Briones, P; Quelhas, D; Artuch, R; Vega, AI; Quintana, E; Gort, L; Ecay, MJ; Matthijs, G; Ugarte, M; Pérez-Cerdá, C;
PUBLISHED: 2011, SOURCE: JIMD Reports - JIMD Reports - Case and Research Reports, 2011/1
AUTHORS: Pérez, B; Briones, P; Quelhas, D; Artuch, R; Vega, AI; Quintana, E; Gort, L; Ecay, MJ; Matthijs, G; Ugarte, M; Pérez-Cerdá, C;
PUBLISHED: 2011, SOURCE: JIMD Reports - JIMD Reports - Case and Research Reports, 2011/1
34
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
35
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
36
TITLE: Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
AUTHORS: Foulquier, F; Vasile, E; Schollen, E; Callewaert, N; Raemaekers, T; Quelhas, D; Jaeken, J; Mills, P; Winchester, B; Krieger, M; Annaert, W; Matthijs, G;
PUBLISHED: 2006, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 103, ISSUE: 10
AUTHORS: Foulquier, F; Vasile, E; Schollen, E; Callewaert, N; Raemaekers, T; Quelhas, D; Jaeken, J; Mills, P; Winchester, B; Krieger, M; Annaert, W; Matthijs, G;
PUBLISHED: 2006, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 103, ISSUE: 10
37
TITLE: Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice Full Text
AUTHORS: Duarte, JA ; Leao, A; Magalhaes, J ; Ascensao, A ; Bastos, ML ; Amado, FL ; Vilarinho, L; Quelhas, D; Appell, HJ; Carvalho, F ;
PUBLISHED: 2005, SOURCE: TOXICOLOGY, VOLUME: 206, ISSUE: 3
AUTHORS: Duarte, JA ; Leao, A; Magalhaes, J ; Ascensao, A ; Bastos, ML ; Amado, FL ; Vilarinho, L; Quelhas, D; Appell, HJ; Carvalho, F ;
PUBLISHED: 2005, SOURCE: TOXICOLOGY, VOLUME: 206, ISSUE: 3
38
TITLE: Sudden infant death syndrome - Molecular and biochemical investigation [Investigação bioquímica e molecular na morte súbita do lactente (SIDS)]
AUTHORS: Cardoso, ML; Pinheiro, J; Pereira, C; Sousa, C; Nogueira, C; Tesa, A; Ramos, A; Balreira, A; Lima, C; Valongo, C; Couto, D; Quelhas, D; Fonseca, H; Rocha, H; Almeida, L; Rodrigues, R; Santos, R; Santorelli, FM; Vilarinho, L;
PUBLISHED: 2004, SOURCE: Nascer e Crescer, VOLUME: 13, ISSUE: 3
AUTHORS: Cardoso, ML; Pinheiro, J; Pereira, C; Sousa, C; Nogueira, C; Tesa, A; Ramos, A; Balreira, A; Lima, C; Valongo, C; Couto, D; Quelhas, D; Fonseca, H; Rocha, H; Almeida, L; Rodrigues, R; Santos, R; Santorelli, FM; Vilarinho, L;
PUBLISHED: 2004, SOURCE: Nascer e Crescer, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID39
TITLE: Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
AUTHORS: Butler, M; Quelhas, D; Critchley, AJ; Carchon, H; Hebestreit, HF; Hibbert, RG; Vilarinho, L; Teles, E; Matthijs, G; Schollen, E; Argibay, P; Harvey, DJ; Dwek, RA; Jaeken, J; Rudd, PM;
PUBLISHED: 2003, SOURCE: GLYCOBIOLOGY, VOLUME: 13, ISSUE: 9
40
TITLE: X-LINKED ADRENOLEUKODYSTROPHY IN PATIENTS WITH IDIOPATHIC ADDISON-DISEASE
AUTHORS: JORGE, P ; QUELHAS, D; OLIVEIRA, P ; PINTO, R; NOGUEIRA, A;
PUBLISHED: 1994, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 153, ISSUE: 8
AUTHORS: JORGE, P ; QUELHAS, D; OLIVEIRA, P ; PINTO, R; NOGUEIRA, A;
PUBLISHED: 1994, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 153, ISSUE: 8
