Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
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Ángela Arias
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Ángela Arias is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Metabolism and Genetic Disorders & Muscle metabolism and nutrition & Diverse Scientific and Economic Studies. The author has an h-index of 20, co-authored 44 publications.
ORCID: 0000-0002-1633-9549Papers by this author
worksDefining the pathogenicity of creatine deficiency syndrome
2010 · Human Mutation · 30 citations
https://doi.org/10.1002/humu.21421
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
2009 · Molecular Genetics and Metabolism · 28 citations
https://doi.org/10.1016/j.ymgme.2009.10.186
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes
2024 · Clinical Chemistry and Laboratory Medicine (CCLM) · 2 citations
https://doi.org/10.1515/cclm-2023-1291
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
2025 · Neurobiology of Disease · 1 citations
https://doi.org/10.1016/j.nbd.2025.107098
Treatment of genetic defects of thiamine transport and metabolism
2016 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.3458807
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