Concepedia

Luísa Diogo

LD

63

Publications

2.8K

Citations

28

H-Index

1996

Active since

Affiliations

Hospitais da Universidade de Coimbra(Current)

University of Coimbra

Centro de Genética Clínica

Hospital de São João

University of Lisbon

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

ORCID

Top concepts

Publications per year

1996–2023

63

Publications

63

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

, , +13

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack et al. · Brain · 2012 · 216 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

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 138 citations · Full text

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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