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TITLE: Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts
AUTHORS: Encarnacao, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce ; Alves, Sandra;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 11

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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

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TITLE: Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
AUTHORS: Da Silva, Jorge Diogo; Pereira, Angela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Marcio; Garrido, Cristina; Soares, Celia Azevedo ; Nunes, Isabel Serra; Fortuna, Ana Maria; Quelhas, Dulce ; Figueiroa, Sonia; Ribeiro, Rosa; Santos, Manuela; Martins, Esmeralda ; Tkachenko, Nataliya ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RESEARCH

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TITLE: Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
AUTHORS: Quelhas, Dulce ; Jaeken, Jaak; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 46, ISSUE: 1

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TITLE: Assessing the effects of PMM2 variants on protein stability Full Text
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4

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TITLE: Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Full Text
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I; Souche, E; Race, V; Keldermans, L; Matthijs, G; Jaeken, J; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231

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TITLE: SLC35A2-CDG: Novel variant and review
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L ; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26

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