Olga Amaral - Dissemin

Papers authored by Olga Amaral

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2008 Olga Amaral

A new variant or an atypical form of Fabry Disease

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M. Mangas, C. Nogueira, Mj Prata

, L. Lacerda, Mj Coll, G. Soares, G. Ribeiro, O. Amaral

, C. Ferreira, C. Alves, Mf Coutinho, S. Alves

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

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Olga Amaral

Molecular characterization of mucopolysaccharidosis (MPS type IIIA and IIIB)

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2007 Olga Amaral

Case report: An adult patient with late-onset Krabbe disease

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Olga Amaral

Preliminary results of molecular characterization of alpha-glucosidase gene (GAA) in Portuguese patients with Pompe disease

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W. Cherif, H. Ben Turkia, N. Tebib, F. Ben Rhouma, Abdelmoula Ms, H. Azzouz, C. Caillaud, Sà Miranda Mc, Ben Dridi Mf, Olga Amaral

, S. Abdelhak

[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous]

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W. Cherif, H. Ben Turkia, N. Tebib, O. Amaral

, F. Ben Rhouma, Abdelmoula, H. Azzouz, C. Caillaud, M. C. Sà Miranda, S. Abdelhak, Ben Dridi

Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous,Spectre mutationnel de la maladie de Gaucher en Tunisie: forte fréquence des hétérozygotes composites N370S/Rec NciI.

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2006 Olga Amaral

Characterization of the SMPD1 gene

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2005 Agnieszka Lugowska, Olga Amaral

, Johannes Berger, Linda Berna, Nils U. Bosshard, Amparo Chabas, Anthony Fensom, Volkmar Gieselmann, Natalia G. Gorovenko, Willy Lissens, Jan-Eric Mansson, Ana Marcao, Helen Michelakakis, Hanno Bernheimer, Natalia V. Ol’khovych and 4 other authors

Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

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Olga Amaral

Preferential PCR amplification of a single allele: report of two cases,

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Olga Amaral

Study of micro-rearrangements in the glucocerebrosidade and alphagalactosidase genes

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2004 Olga Amaral

Arylsulfatase B mutations in Portuguese MPS VI patient

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M. R. Rodrigues, M. C. Sá Miranda, Olga Amaral

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR

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Aureliano Dias, Eugenia Pinto, Isaura Ribeiro, Sa Miranda Mc, Olga Amaral

, Olga Amaral; Aureliano Dias; Eugenia Pinto; Isaura Ribeiro; MC Sa Miranda;

Arylsulfatase B mutations in Portuguese MPS VI patients

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Olga Amaral

Identification of Seven New Mutations in Portuguese NPC1 Patients

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Olga Amaral

Molecular characterization of mucopolysaccharidosis (mucopolisacaridoses type VI)

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Olga Amaral

Niemman-Pick type A/B

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This paper is made freely available by the publisher.

2003 Rui Pinto, Carla Caseiro, Manuela Lemos, Lurdes Lopes, Augusta Fontes, Helena Ribeiro, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Ana Marcão, Isaura Ribeiro, Lúcia Lacerda, Gil Ribeiro, Olga Amaral

, M. C. Sá Miranda

Prevalence of lysosomal storage diseases in Portugal

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Olga Amaral

Molecular Diagnosis of Fabry disease at the IGMJM: Current status and dilemmas

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Olga Amaral

A novel approach to the detection of common mutations in genes involved in lysosomal storage disorders

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Papers authored by Olga Amaral