Lista de obras - Paula Garcia - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico

Acute liver failure related to inherited metabolic diseases in young children

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Galactose Epimerase Deficiency: Expanding the Phenotype.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Juvenile Pompe disease: retrospective clinical study

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections

artículo científico publicado en 2016

Lista de obras de 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