Rafael Artuch

Instituto de Investigación de Enfermedades Raras

Also affiliated with Institut de Recerca Sant Joan de Déu

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 3 papers. Top paper: “Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome”.

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Acta Neuropathologica(2020)10.1007/s00401-020-02223-w

N/A

0DataRank · unranked

46 citations

Edgard Verdura, Natalia Juliá‐Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas‐Serra +33 more

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12657

N/A

0DataRank · unranked

7 citations

Udo F. H. Engelke, Siebolt de Boer, Joris T. G. Reintjes, Jean‐Baptiste Roullet, Sanne Broekman +14 more

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

European Journal of Human Genetics(2024)10.1038/s41431-023-01526-2

N/A

0DataRank · unranked

10 citations

Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz +21 more