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List of works by Ana Gaspar

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

scientific article

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

scientific article

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

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

scientific article published on 07 January 2019

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

scientific article published on 23 July 2014

Incidence of maple syrup urine disease in Portugal

scientific article published on 22 April 2010

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

scientific article published on 01 January 2019

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

scientific article

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

scientific article published on 17 February 2019

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

scientific article published on 31 July 2011

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

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

scientific article

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

scientific article published on 01 March 2019

The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner

scientific article published on 18 July 2018

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