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Lista de obras de Ana Gaspar

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Incidence of maple syrup urine disease in Portugal

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

scientific article published on 18 July 2018

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