about
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Treatment of genetic defects of thiamine transport and metabolism.Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studiesMutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhoodEffect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
L Marti-Sanchez
@en
L Marti-Sanchez
@nl
type
label
L Marti-Sanchez
@en
L Marti-Sanchez
@nl
prefLabel
L Marti-Sanchez
@en
L Marti-Sanchez
@nl
P31
P496
0000-0002-5051-3053