Concepedia

Sonia Pajares

SP

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Publications

7

Citations

243

H-Index

7

Active since

2012

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Clínic de Barcelona

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Vall d'Hebron Hospital Universitari

Hospital Sant Joan de Déu Barcelona

Sonia Pajares is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, metabolism, and mitochondrial disease.

ORCID

Top concepts

Publications per year

2012–2023

7

Publications

7

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Sonia Pajares, Ángela Arias, Judit García‐Villoria et al. · Journal of Lipid Research · 2015 · 67 citations · Full text

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2014 · 56 citations · Full text

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe et al. · Brain · 2023 · 30 citations · Full text

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Sonia Pajares, José Antonio Arranz, Aída Ormazábal et al. · Orphanet Journal of Rare Diseases · 2021 · 29 citations · Full text

Role of creatine as biomarker of mitochondrial diseases

Sonia Pajares, Ángela Arias, Judit García‐Villoria et al. · Molecular Genetics and Metabolism · 2012 · 28 citations

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