Publications by authors named "Esmeralda Martins"

33Publications

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Int J Mol Sci 2020 Sep 1;21(17). Epub 2020 Sep 1.

Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21176355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503609PMC
September 2020

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center.

Front Pediatr 2020 30;8:351. Epub 2020 Jun 30.

Paediatric Gastroenterology Unit, Hospital Universitário de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2020.00351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338938PMC
June 2020

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.

GE Port J Gastroenterol 2019 Oct 14;26(6):430-437. Epub 2019 Mar 14.

Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000496571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876595PMC
October 2019

Iron-sulfur cluster ISD11 deficiency ( gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria.

JIMD Rep 2019 Sep 24;49(1):11-16. Epub 2019 Jul 24.

Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department National Institute of Health Doutor Ricardo Jorge Lisboa Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718106PMC
September 2019

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.

Curr Mol Med 2019 ;19(7):487-493

Biosystems and Integrative Sciences Institute, Faculdade de Ciencias, Universidade de Lisboa, and Departamento de Quimica e Bioquimica, Faculdade de Ciencias, 1749-016 Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1566524019666190507114748DOI Listing
August 2020

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Mitochondrion 2019 07 1;47:309-317. Epub 2019 Mar 1.

Research & Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2019.02.006DOI Listing
July 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.

Eur J Pediatr 2019 Jan 7;178(1):21-32. Epub 2018 Dec 7.

Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr. Ricardo Jorge, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-018-3292-xDOI Listing
January 2019

Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.

Clin Res Hepatol Gastroenterol 2018 10 26;42(5):e77-e82. Epub 2018 Apr 26.

Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinre.2018.03.012DOI Listing
October 2018

Symmetric asymptomatic reticular lesions of the skin.

J Paediatr Child Health 2017 10;53(10):1024

Department of Pediatrics, Centro Hospitalar do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.1_13513DOI Listing
October 2017

Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools.

Eur J Pediatr 2017 Mar 12;176(3):361-369. Epub 2017 Jan 12.

Gastroenterology Unit, Paediatrics Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Av. Prof. Egas Moniz, 1600-190, Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-016-2847-yDOI Listing
March 2017

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

JIMD Rep 2016 25;26:53-60. Epub 2015 Aug 25.

Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864718PMC
May 2016

D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

Pediatr Neurol 2015 May 24;52(5):539-43. Epub 2015 Jan 24.

Department of Neuropediatrics, Centro Hospitalar do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.007DOI Listing
May 2015

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Orphanet J Rare Dis 2013 Jul 10;8:102. Epub 2013 Jul 10.

Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago, Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718718PMC
July 2013

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Gene 2013 Sep 17;527(1):366-70. Epub 2013 Jun 17.

Newborn Screening, Metabolic and Genetics Unit, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, 4000-055 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.05.025DOI Listing
September 2013

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

J Inherit Metab Dis 2014 Jan 8;37(1):43-52. Epub 2013 Jun 8.

Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1643-009, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-013-9623-1DOI Listing
January 2014

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

Neuromuscul Disord 2011 Jul 7;21(7):483-8. Epub 2011 May 7.

Centro de Genética Médica Jacinto de Magalhães, Instituto Nacional Saúde Ricardo Jorge, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.03.011DOI Listing
July 2011

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

J Inherit Metab Dis 2011 Jun 24;34(3):835-42. Epub 2011 Feb 24.

Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9287-7DOI Listing
June 2011

Incidence of maple syrup urine disease in Portugal.

Mol Genet Metab 2010 Aug 22;100(4):385-7. Epub 2010 Apr 22.

IPATIMUP - Institute of Pathology and Molecular Immunology, University of Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.04.007DOI Listing
August 2010

Outcome of three cases of untreated maternal glutaric aciduria type I.

Eur J Pediatr 2008 May 28;167(5):569-73. Epub 2007 Jul 28.

Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-007-0556-2DOI Listing
May 2008