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List of works by Laura Martí-Sánchez

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

scientific article

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

scientific article published on 14 November 2019

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

article

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

scientific article published on 30 January 2018

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

scientific article published on 05 January 2019

Treatment of genetic defects of thiamine transport and metabolism

scientific article published on 18 May 2016

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