Concepedia

Paula Garcia

PG

43

Publications

1.9K

Citations

21

H-Index

2004

Active since

Affiliations

Hospitais da Universidade de Coimbra(Current)

University of Coimbra

Hospital de São João

Universidade do Porto

Centro Hospitalar do Porto

Paula Garcia is an author at Hospitais da Universidade de Coimbra specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2004–2023

43

Publications

43

Mitochondrial dysfunction in autism spectrum disorders: a population-based study

Guiomar Oliveira, Luísa Diogo, Manuela Grazina et al. · Developmental Medicine & Child Neurology · 2005 · 269 citations

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

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 165 citations · Full text

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 156 citations

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Shen‐Ying Zhang, Nathaniel E. Clark, Catherine A. Freije et al. · Cell · 2018 · 129 citations · Full text

, , +11

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