Isaura Manuela Duarte Ribeiro
AuthID: R-00H-H5J
11
TITLE: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations Full Text
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
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TITLE: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014) Full Text
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 113, ISSUE: 3
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 113, ISSUE: 3
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ORCID13
TITLE: Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170] Full Text
AUTHORS: Morrone, A; K.L Tylee; Al-Sayed, M; A.C Brusius-Facchin; Caciotti, A; H.J Church; M.J Coll; Davidson, K; M.J Fietz; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F; Leistner-Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; R.Y Wang; ...More
PUBLISHED: 2014, SOURCE: Molecular Genetics and Metabolism, VOLUME: 113, ISSUE: 3
AUTHORS: Morrone, A; K.L Tylee; Al-Sayed, M; A.C Brusius-Facchin; Caciotti, A; H.J Church; M.J Coll; Davidson, K; M.J Fietz; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F; Leistner-Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; R.Y Wang; ...More
PUBLISHED: 2014, SOURCE: Molecular Genetics and Metabolism, VOLUME: 113, ISSUE: 3
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TITLE: Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene Full Text
AUTHORS: Mariana Q Alves; Emmanuelle Le Trionnaire; Isaura Ribeiro; Stephane Carpentier; Klaus Harzer; Thierry Levade; Gil Ribeiro, MG ;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 109, ISSUE: 3
AUTHORS: Mariana Q Alves; Emmanuelle Le Trionnaire; Isaura Ribeiro; Stephane Carpentier; Klaus Harzer; Thierry Levade; Gil Ribeiro, MG ;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 109, ISSUE: 3
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TITLE: Mucopolysaccharidosis type III in Portugal
AUTHORS: Carla Caseiro; Sónia Rocha; Célia Ferreira; Helena Ribeiro; Eugénia Pinto; Fernanda Pinto; Domingos Sousa; Eugénia Pinto; Isaura Ribeiro; Francisco Laranjeira; Maria F Coutinho; Sandra Alves; Lúcia Lacerda;
PUBLISHED: 2013, SOURCE: IX Simpósio Internacional - Sociedade Portuguesa de Doenças Metabólicas (SPDM), 21-22 março 2013
AUTHORS: Carla Caseiro; Sónia Rocha; Célia Ferreira; Helena Ribeiro; Eugénia Pinto; Fernanda Pinto; Domingos Sousa; Eugénia Pinto; Isaura Ribeiro; Francisco Laranjeira; Maria F Coutinho; Sandra Alves; Lúcia Lacerda;
PUBLISHED: 2013, SOURCE: IX Simpósio Internacional - Sociedade Portuguesa de Doenças Metabólicas (SPDM), 21-22 março 2013
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Handle16
TITLE: SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Ana Gaspar; Eugénia Pinto; Isaura Ribeiro; Francisco Laranjeira; Helena Ribeiro; Elizabete Silva; Célia Ferreira; Maria J Prata; Sandra Alves;
PUBLISHED: 2013, SOURCE: 19th ESGLD Workshop (European Study Group on Lysosomal Diseases), 26-29 September 2013
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Ana Gaspar; Eugénia Pinto; Isaura Ribeiro; Francisco Laranjeira; Helena Ribeiro; Elizabete Silva; Célia Ferreira; Maria J Prata; Sandra Alves;
PUBLISHED: 2013, SOURCE: 19th ESGLD Workshop (European Study Group on Lysosomal Diseases), 26-29 September 2013
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Handle17
TITLE: Unverricht -undborg disease: Homozygosity for a new splicing mutation in the cystatin B gene Full Text
AUTHORS: Eugenia Pinto; Joel Freitas; Ana Joana Duarte; Isaura Ribeiro; Diogo Ribeiro; Lopes Lima, JL; Joao Chaves; Olga Amaral;
PUBLISHED: 2012, SOURCE: EPILEPSY RESEARCH, VOLUME: 99, ISSUE: 1-2
AUTHORS: Eugenia Pinto; Joel Freitas; Ana Joana Duarte; Isaura Ribeiro; Diogo Ribeiro; Lopes Lima, JL; Joao Chaves; Olga Amaral;
PUBLISHED: 2012, SOURCE: EPILEPSY RESEARCH, VOLUME: 99, ISSUE: 1-2
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TITLE: Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene
AUTHORS: Eugenia Pinto; Joel Freitas; Ana J Duarte; Isaura Ribeiro; JL Lima; Joao Chaves; Olga Amaral;
PUBLISHED: 2011, SOURCE: Epilepsy Research
AUTHORS: Eugenia Pinto; Joel Freitas; Ana J Duarte; Isaura Ribeiro; JL Lima; Joao Chaves; Olga Amaral;
PUBLISHED: 2011, SOURCE: Epilepsy Research
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Handle19
TITLE: New splicing mutation in the cystatin B gene
AUTHORS: Olga Amaral; Joel Freitas; Eugénia Pinto; Ana J Duarte; Isaura Ribeiro; Diogo Ribeiro; João Chaves;
PUBLISHED: 2011, SOURCE: 18th ESGLD Meeting, September 3-6, 2011
AUTHORS: Olga Amaral; Joel Freitas; Eugénia Pinto; Ana J Duarte; Isaura Ribeiro; Diogo Ribeiro; João Chaves;
PUBLISHED: 2011, SOURCE: 18th ESGLD Meeting, September 3-6, 2011
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Handle20
TITLE: Lipid imbalance in the progressive neurological metabolic disorder, Farber disease
AUTHORS: Maria G R Ribeiro; Natália Ferreira; Mariana Alves; Isaura Ribeiro;
PUBLISHED: 2010
AUTHORS: Maria G R Ribeiro; Natália Ferreira; Mariana Alves; Isaura Ribeiro;
PUBLISHED: 2010
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