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List of works by Maria João Silva

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

scientific article

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

scientific article published on 27 March 2015

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

scientific article published on 22 June 2016

Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

scientific article

Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues

scientific article

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

scientific article published on 23 June 2014

Functional correction by antisense therapy of a splicing mutation in the GALT gene

scientific article published on 23 July 2014

Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity

scientific article published on 16 November 2009

Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis

scientific article published on 29 June 2012

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

scientific article published on 9 April 2008

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