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Dulce Quelhas

Showing results (11-20 of 44) with videos related to

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Orphanet Journal of Rare Diseases|April 30, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analysesTiago Oliveira, Ricardo Ferraz, Luísa Azevedo, et al.
Journal of Medical Cases|March 23, 2022
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic HyperammonemiaRute Sousa Martins, Arlindo Guimas, Sara Rocha, et al.
Genes|November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDGLaurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism|December 13, 2017
Renal involvement in PMM2-CDG, a mini-reviewRuqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Human Molecular Genetics|June 5, 2009
Golgi function and dysfunction in the first COG4-deficient CDG type II patientEllen Reynders, François Foulquier, Elisa Leão Teles, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
Parkinsonism & Related Disorders|April 27, 2023
Diagnosis across a cohort of "atypical" atypical and complex parkinsonismMaria João Malaquias, Liliana Igreja, Célia Nogueira, et al.
Molecular Genetics & Genomic Medicine|March 5, 2019
Genotype-phenotype correlations and BH<sub>4</sub> estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast BrazilEduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, et al.
Molecular Genetics and Metabolism|November 10, 2012
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndromeJúlio C Rocha, Francjan J van Spronsen, Manuela F Almeida, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
SLC35A2-CDG: Novel variant and reviewDulce Quelhas, Joana Correia, Jaak Jaeken, et al.
Pageof 5

Showing results (11-20 of 44) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|April 30, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analysesTiago Oliveira, Ricardo Ferraz, Luísa Azevedo, et al.
Journal of Medical Cases|March 23, 2022
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic HyperammonemiaRute Sousa Martins, Arlindo Guimas, Sara Rocha, et al.
Genes|November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDGLaurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism|December 13, 2017
Renal involvement in PMM2-CDG, a mini-reviewRuqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Human Molecular Genetics|June 5, 2009
Golgi function and dysfunction in the first COG4-deficient CDG type II patientEllen Reynders, François Foulquier, Elisa Leão Teles, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
Parkinsonism & Related Disorders|April 27, 2023
Diagnosis across a cohort of "atypical" atypical and complex parkinsonismMaria João Malaquias, Liliana Igreja, Célia Nogueira, et al.
Molecular Genetics & Genomic Medicine|March 5, 2019
Genotype-phenotype correlations and BH<sub>4</sub> estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast BrazilEduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, et al.
Molecular Genetics and Metabolism|November 10, 2012
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndromeJúlio C Rocha, Francjan J van Spronsen, Manuela F Almeida, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
SLC35A2-CDG: Novel variant and reviewDulce Quelhas, Joana Correia, Jaak Jaeken, et al.
Pageof 5