Paula Garcia - Concepedia

Author

Paula Garcia

Hospitais da Universidade de Coimbra ORCID

Also Known As

Garcia, Paula, P Garcia, P. Garcia, Paula C. Garcia, Paula Cristina Garcia, Paula Garcia, Paula Oliveira Garcia, Priscila Garcia Marques

Publications

Citations

H-Index

Concepts

All Affiliations

Hospitais da Universidade de Coimbra University of Coimbra Hospital de São João Universidade do Porto Centro Hospitalar do Porto

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	20	875
2	Education	2	2	290
3	Natural Sciences	2	2	90
4	Health Sciences	1	1	18
5	Social Sciences	1	1	35

Paula Garcia

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Mitochondrial dysfunction in autism spectrum disorders: a population-based study Guiomar Oliveira, Luísa Diogo, Manuela Grazina, Developmental Medicine & Child Neurology Neurodevelopmental DisordersNutritionTypical AutismMitochondrial FunctionMitochondrial Dysfunction	2005	269
Clinical presentation and outcome in a series of 88 patients with the cblC defect Sabine Fischer, Martina Huemer, Matthias R. Baumgartner, Journal of Inherited Metabolic Disease	2014	165
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Journal of Medical Genetics	2013	159
GAMT deficiency Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami, Neurology	2006	156
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection Shen‐Ying Zhang, Nathaniel E. Clark, Catherine A. Freije, Cell Viral ReplicationInborn ErrorsMolecular VirologyNeurovirologyGenetics	2018	129
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects Maria A. Rujano, M Serio, Ganna Panasyuk, The Journal of Experimental Medicine	2017	84
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study Kanika Dharmayat, Antonio J. Vallejo‐Vaz, Christophe Stevens, The Lancet	2023	71
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Mitochondrion Mitochondrial FunctionGenetic DisorderNatural SciencesGeneticsDna Replication	2013	54
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI Paul Harmatz, Paula Garcia, Nathalie Guffon, Journal of Inherited Metabolic Disease	2013	43
Outcome of three cases of untreated maternal glutaric aciduria type I Paula Garcia, Esmeralda Martins, Luísa Diogo, European Journal of Pediatrics UrologyIga GlomerulonephritisGynecologyMaternal HealthMedicine	2007	42

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