Dulce Quelhas

Dulce Quelhas

UNVERIFIED PROFILE

Are you Dulce Quelhas?   Register this Author

Register author
Dulce Quelhas

Dulce Quelhas

Publications by authors named "Dulce Quelhas"

Are you Dulce Quelhas?   Register this Author

17Publications

472Reads

12Profile Views

Genotype-phenotype correlations and BH estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Mol Genet Genomic Med 2019 05 3;7(5):e610. Epub 2019 Mar 3.

Serviço de Genética Médica, Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503030PMC
May 2019

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Mol Genet Genomic Med 2018 May 10. Epub 2018 May 10.

Serviço de Genética Médica, Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081236PMC
May 2018

Renal involvement in PMM2-CDG, a mini-review.

Mol Genet Metab 2018 03 28;123(3):292-296. Epub 2017 Nov 28.

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Tulane University Medical School, Department of Pediatrics, New Orleans, LA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.012DOI Listing
March 2018

Galactose Epimerase Deficiency: Expanding the Phenotype.

JIMD Rep 2017 1;37:19-25. Epub 2017 Mar 1.

Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra, EPE, Avenida Afonso Romão, Coimbra, 3000-206, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2017_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740041PMC
March 2017

Improving the in silico assessment of pathogenicity for compensated variants.

Eur J Hum Genet 2016 01 5;25(1):2-7. Epub 2016 Oct 5.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159764PMC
January 2016

Congenital disorders of glycosylation with neonatal presentation.

BMJ Case Rep 2014 Apr 16;2014. Epub 2014 Apr 16.

NICU, Júlio Dinis Maternity, Oporto Medical Center, Oporto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2013-010037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992553PMC
April 2014

De Barsy syndrome and ATP6V0A2-CDG.

Eur J Hum Genet 2010 May 16;18(5):526; author reply 526. Epub 2009 Dec 16.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987315PMC
May 2010

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Hum Mol Genet 2009 Sep 3;18(17):3244-56. Epub 2009 Jun 3.

and Department for Molecular and Developmental Genetics, Laboratory for Membrane Trafficking, Center for Human Genetics, University of Leuven VIB, B-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722986PMC
September 2009

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Clin Chem 2008 Jan 16;54(1):93-100. Epub 2007 Nov 16.

Centro de Diagnóstico de Enfermedades Moleculares, Dpto. de Biología Molecular CBM-SO, Facultad de Ciencias, CIBER de Enfermedades Raras, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

View Article

Download full-text PDF

Source
http://www.clinchem.org/cgi/doi/10.1373/clinchem.2007.093450
Publisher Site
http://dx.doi.org/10.1373/clinchem.2007.093450DOI Listing
January 2008

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.

Mol Genet Metab 2006 Apr 15;87(4):379. Epub 2005 Dec 15.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.10.001DOI Listing
April 2006

Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.

Toxicology 2005 Jan;206(3):349-58

CIAFEL, Faculty of Sport Sciences, University of Porto, Rua Dr. Plácido Costa 91, 4200 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tox.2004.07.012DOI Listing
January 2005