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List of works by Àngels García-Cazorla

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

scientific article published on 24 June 2019

L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

scientific article published on 18 June 2019

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

scientific article published on 10 March 2015

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

scientific article published on 30 June 2016

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