Concepedia

Ángela Arias

ÁA

22

Publications

1.1K

Citations

19

H-Index

2001

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Sant Joan de Déu Barcelona

Hospital Clínic de Barcelona

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Consejo Superior de Investigaciones Científicas

Ángela Arias is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, physiology, and metabolism.

ORCID

Top concepts

Publications per year

2001–2019

22

Publications

22

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

Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Frederic Tort, Xènia Ferrer-Cortés, Marta Thió et al. · Human Molecular Genetics · 2013 · 84 citations · Full text

, , +19

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel A. Martı́n et al. · Mitochondrion · 2016 · 77 citations

, , +8

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Ángela Arias, Marc Corbella, Carmen Fons et al. · Clinical Biochemistry · 2007 · 76 citations

, , +5

X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism

P. Póo‐Argüelles, Ángela Arias, Marta Vilaseca et al. · Journal of Inherited Metabolic Disease · 2006 · 74 citations

Rows per page

1–5 of 22