List of works - Paula Garcia

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

scientific article

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

scientific article published on 20 March 2014

Acute liver failure in under two year-olds--are there markers of metabolic disease on admission?

scientific article published on September 2013

Acute liver failure related to inherited metabolic diseases in young children

scientific article published on 11 April 2017

Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

scientific article published on April 2013

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

scientific article published on 6 March 2014

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

scientific article

Galactose Epimerase Deficiency: Expanding the Phenotype.

scientific article published in March 2017

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

scientific article published on 10 October 2013

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

scientific article published on 15 October 2016

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

scientific article published on 01 January 2014

Juvenile Pompe disease: retrospective clinical study

scientific article published in July 2013

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

scientific article

Phenotyping GABA transaminase deficiency: a case description and literature review.

scientific article

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

scientific article published in December 2013

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

scientific article

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections

scientific article published on 18 April 2016

List of works by Paula Garcia

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

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Acute liver failure in under two year-olds--are there markers of metabolic disease on admission?

Acute liver failure related to inherited metabolic diseases in young children

Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Galactose Epimerase Deficiency: Expanding the Phenotype.

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

Juvenile Pompe disease: retrospective clinical study

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Phenotyping GABA transaminase deficiency: a case description and literature review.

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections