Publications by authors named "Ana Marcao"

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Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.
Bernardo Camacho, Luísa Pereira, Raquel Bragança, Susana Castanhinha, Raquel Penteado

Int J Neonatal Screen· August 2025

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Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.
Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria

Int J Neonatal Screen· January 2025

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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca

Int J Neonatal Screen· March 2024

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Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Filipa Ferreira

Endocr Metab Immune Disord Drug Targets· September 2023

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Pilot Study on Newborn Screening for Spinal Muscular Atrophy.
Helena Fonseca, Diogo Ribeiro, Fabio Guimarães, Conceição Pinto, Ana Marcão

Endocr Metab Immune Disord Drug Targets· September 2023

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Role of RNA in Molecular Diagnosis of MADD Patients.
Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca

Biomedicines· May 2021

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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca

Mol Genet Genomic Med· March 2021

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[Portuguese Newborn Screening Program.].
Hugo Rocha, Ana Marcão, Carmen Sousa, Helena Fonseca, Lurdes Lopes

Rev Esp Salud Publica· January 2021

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Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Stephan Lobitz, Paul Telfer, Elena Cela, Bichr Allaf, Michael Angastiniotis, Ana Marcao

Br J Haematol· November 2018

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Ana Marcão, Celeste Barreto, Luísa Pereira, Luísa Guedes Vaz, José Cavaco

Int J Neonatal Screen· September 2018

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3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Helena Fonseca, Luisa Azevedo, Catarina Serrano, Carmen Sousa, Ana Marcão

Gene· December 2016

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Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.
Ana Marcão, María L Couce, Célia Nogueira, Helena Fonseca, Filipa Ferreira

JIMD Rep· March 2015

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Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
Laura Vilarinho, Hugo Rocha, Carmen Sousa, Ana Marcão, Helena Fonseca

J Inherit Metab Dis· December 2010

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Outcome of three cases of untreated maternal glutaric aciduria type I.
Paula Garcia, Esmeralda Martins, Luísa Diogo, Hugo Rocha, Ana Marcão

Eur J Pediatr· May 2008

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Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Agnieszka Lugowska, Olga Amaral, Johannes Berger, Linda Berna, Nils U Bosshard, Ana Marcao

Mol Genet Metab· November 2005

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Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
Peter Poeppel, Matthias Habetha, Ana Marcão, Heinrich Büssow, Linda Berna

FEBS J· March 2005

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Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Ana M Marcão, Roland Wiest, Kaspar Schindler, Ulrich Wiesmann, Joachim Weis

Arch Neurol· February 2005

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Prevalence of lysosomal storage diseases in Portugal.
Rui Pinto, Carla Caseiro, Manuela Lemos, Lurdes Lopes, Augusta Fontes

Eur J Hum Genet· February 2004

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ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
Ana Marcão, Eugénia Pinto, Sónia Rocha, M C Sá Miranda, Luís Ferreira

Mol Genet Metab· August 2003

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Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
Ana Marcão, Jorge E Azevedo, Volkmar Gieselmann, M C Sá Miranda

Biochem Biophys Res Commun· June 2003

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Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Ana Marcão, Heidi Simonis, Frank Schestag, M Clara Sá Miranda, Volkmar Gieselmann

Am J Med Genet A· January 2003

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