Publications by authors named "Lucia Lacerda"

18Publications

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.

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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.

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

Screening for Pompe disease in a Portuguese high risk population.

Neuromuscul Disord 2017 Aug 29;27(8):777-781. Epub 2017 Mar 29.

Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2017.03.010DOI Listing
August 2017

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.

BMJ Case Rep 2015 Sep 22;2015. Epub 2015 Sep 22.

Neurology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.

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http://dx.doi.org/10.1136/bcr-2015-210625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593283PMC
September 2015

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.

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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.

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

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet J Rare Dis 2014 Apr 25;9:59. Epub 2014 Apr 25.

Unidad Diagnóstico y Tratamiento de Errores Congénitos del Metabolismo (Servicio de Neonatología), Facultad de Medicina y Odontología de la Universidad de Santiago de Compostela, 15706 Santiago de Compostela, La Coruña, Spain.

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http://dx.doi.org/10.1186/1750-1172-9-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024120PMC
April 2014

[Juvenile Pompe disease: retrospective clinical study].

Acta Med Port 2013 Jul-Aug;26(4):361-70. Epub 2013 Aug 30.

Centro de Desenvolvimento Luís Borges. Hospital Pediátrico Carmona da Mota. Centro Hospitalar Universitário de Coimbra. Coimbra. Portugal..

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July 2014

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Am J Med Genet A 2012 May 11;158A(5):1225-8. Epub 2012 Apr 11.

Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.35295DOI Listing
May 2012

Glycosaminoglycan storage disorders: a review.

Biochem Res Int 2012 5;2012:471325. Epub 2011 Oct 5.

Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.

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http://dx.doi.org/10.1155/2012/471325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195295PMC
November 2011

Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy.

Nat Clin Pract Cardiovasc Med 2007 Nov;4(11):630-3

Faculdade de Medicina do Porto, Alameda Prof Hernâni Monteiro, 4200 Porto, Portugal.

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http://dx.doi.org/10.1038/ncpcardio1012DOI Listing
November 2007

Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease.

Clin Chem Lab Med 2002 Jan;40(1):52-5

Laboratorio Central, Hospital Clinico Universitario, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1515/CCLM.2002.010DOI Listing
January 2002