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Dulce Quelhas
Dulce Quelhas
CGMJM - CHP_Porto Portugal
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Year
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
3882008
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
F Foulquier, E Vasile, E Schollen, N Callewaert, T Raemaekers, ...
Proceedings of the National Academy of Sciences 103 (10), 3764-3769, 2006
2062006
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an …
M Butler, D Quelhas, AJ Critchley, H Carchon, HF Hebestreit, RG Hibbert, ...
Glycobiology 13 (9), 601-622, 2003
1892003
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
E Reynders, F Foulquier, E Leão Teles, D Quelhas, W Morelle, ...
Human molecular genetics 18 (17), 3244-3256, 2009
1572009
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
JC Rocha, FJ van Spronsen, MF Almeida, G Soares, D Quelhas, E Ramos, ...
Molecular genetics and metabolism 107 (4), 659-663, 2012
912012
CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation
JC Jansen, S Cirak, M Van Scherpenzeel, S Timal, J Reunert, S Rust, ...
The American Journal of Human Genetics 98 (2), 310-321, 2016
862016
Fractional dynamics in DNA
JAT Machado, AC Costa, MD Quelhas
Communications in Nonlinear Science and Numerical Simulation 16 (8), 2963-2969, 2011
762011
MAN1B1 deficiency: an unexpected CDG-II
D Rymen, R Peanne, MB Millón, V Race, L Sturiale, D Garozzo, P Mills, ...
PLoS genetics 9 (12), e1003989, 2013
702013
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up
R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ...
Journal of inherited metabolic disease 42 (1), 5-28, 2019
642019
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
MA Rujano, M Cannata Serio, G Panasyuk, R Péanne, J Reunert, ...
Journal of Experimental Medicine 214 (12), 3707-3729, 2017
542017
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients
M Barbosa, A Lopes, C Mota, E Martins, J Oliveira, S Alves, P De Bonis, ...
Clinical genetics 81 (1), 47-55, 2012
482012
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease
C Perez-Cerda, D Quelhas, AI Vega, J Ecay, L Vilarinho, M Ugarte
Clinical chemistry 54 (1), 93-100, 2008
432008
Wavelet analysis of human DNA
JAT Machado, AC Costa, MD Quelhas
Genomics 98 (3), 155-163, 2011
422011
X-linked adrenoleukodystrophy in patients with idiopathic Addison disease
P Jorge, D Quelhas, P Oliveira, R Pinto, A Nogueira
European journal of pediatrics 153 (8), 594-597, 1994
371994
Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects
C Amaral, E Gallardo, R Rodrigues, RP Leite, D Quelhas, C Tomaz, ...
Journal of Chromatography B 878 (23), 2130-2136, 2010
322010
Shannon, Rényie and Tsallis entropy analysis of DNA using phase plane
JAT Machado, AC Costa, MD Quelhas
Nonlinear Analysis: Real World Applications 12 (6), 3135-3144, 2011
302011
Histogram-based DNA analysis for the visualization of chromosome, genome and species information
AM Costa, JT Machado, MD Quelhas
Bioinformatics 27 (9), 1207-1214, 2011
302011
Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice
JA Duarte, A Leão, J Magalhães, A Ascensão, ML Bastos, FL Amado, ...
Toxicology 206 (3), 349-358, 2005
272005
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
A Čechová, R Altassan, D Borgel, A Bruneel, J Correia, M Girard, ...
Journal of inherited metabolic disease 43 (4), 671-693, 2020
242020
Entropy analysis of the DNA code dynamics in human chromosomes
JAT Machado, AC Costa, MD Quelhas
Computers & Mathematics with Applications 62 (3), 1612-1617, 2011
242011
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Articles 1–20