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Dulce Quelhas

Observed names: D Quelhas, D. Quelhas, Quelhas, D, Quelhas, D., Quelhas, Dulce, Quelhas,Dulce
Observed institutions: Universidade do Porto, Hospital de São João, Centro Regional de Hemodonación, Hospital de Santo António, National Institute of Health Dr. Ricardo Jorge, Instituto Murciano de Investigación Biosanitaria, Centro Hospitalar do Porto, Unidade Local de Saúde de Santo António EPE, Instituto de Ciências Biomédicas Albel Salazar, Institute of Public Health, University of Porto, Universidad de Murcia
ORCID: 0000-0001-9989-9236
Observed ORCID: 0000-0001-9989-9236
OpenAlex ID: A5066534332
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
2006 · François Foulquier, Eliza Vasile, et al. · Proceedings of the National Academy of Sciences · 189
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
2003 · Michael Butler, D. Quelhas, et al. · Glycobiology · 154
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019 · Ruqaiah Altassan, Romain Péanne, et al. · Journal of Inherited Metabolic Disease · 149
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
2009 · Ellen Reynders, François Foulquier, et al. · Human Molecular Genetics · 143
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
2012 · Júlio C. Rocha, Francjan J. van Spronsen, et al. · Molecular Genetics and Metabolism · 100
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
2016 · Jos C. Jansen, Sebahattin Cirak, et al. · The American Journal of Human Genetics · 99
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MAN1B1 Deficiency: An Unexpected CDG-II
2013 · Daisy Rymen, Romain Peanne, et al. · PLoS Genetics · 91
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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
2017 · Maria A. Rujano, Magda Cannata Serio, et al. · The Journal of Experimental Medicine · 89
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International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
2020 · Ruqaiah Altassan, Silvia Radenkovic, et al. · Journal of Inherited Metabolic Disease · 67
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
2020 · Anna Čechová, Ruqaiah Altassan, et al. · Journal of Inherited Metabolic Disease · 67
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Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients
2011 · M Barbosa, A Lopes, et al. · Clinical Genetics · 44
Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease
2007 · Celia Pérez-Cerdá, Dulce Quelhas, et al. · Clinical Chemistry · 39
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SLC35A2-CDG: Novel variant and review
2021 · Dulce Quelhas, Joana Correia, et al. · Molecular Genetics and Metabolism Reports · 33
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Renal involvement in PMM2-CDG, a mini-review
2017 · Ruqaiah Altassan, Peter Witters, et al. · Molecular Genetics and Metabolism · 33
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Improving the in silico assessment of pathogenicity for compensated variants
2016 · Luisa Azevedo, Matthew Mort, et al. · European Journal of Human Genetics · 32
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X-linked adrenoleukodystrophy in patients with idiopathic Addison disease
1994 · Paula Jorge, Dulce Quelhas, et al. · European Journal of Pediatrics · 31
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
2021 · Francis Rossignol, Marvid S. Duarte Moreno, et al. · Genetics in Medicine · 29
Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects
2010 · C. Amaral, E. Gallardo, et al. · Journal of Chromatography B · 26
Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice
2004 · José A. Duarte, Anabela Leão, et al. · Toxicology · 25
Genotype-Phenotype Correlations in PMM2-CDG
2021 · Laurien Vaes, Daisy Rymen, et al. · Genes · 21
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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
2018 · Eduardo Vieira Neto, Francisco Laranjeira, et al. · Molecular Genetics & Genomic Medicine · 21
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The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
2011 · B. Pérez, P. Briones, et al. · JIMD Reports · 19
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De Barsy syndrome and ATP6V0A2-CDG
2009 · Elisa Leao-Teles, Dulce Quelhas, et al. · European Journal of Human Genetics · 19
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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
2020 · Dulce Quelhas, Esmeralda Martins, et al. · The Journal of Pediatrics · 18
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Galactose Epimerase Deficiency: Expanding the Phenotype
2017 · Filipa Dias Costa, Sacha Ferdinandusse, et al. · JIMD Reports · 17
Works count: 93
Citation count: 1,763
H-index: 21
I10-index: 36
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