about
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disordersTargeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismBiochemical diagnosis of coenzyme q10 deficiency.Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.Molecular diagnosis of coenzyme Q10 deficiency.Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies.Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.Mutation loads in different tissues from six pathogenic mtDNA point mutations.Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.
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P50
description
researcher ORCID ID = 0000-0001-7742-0589
@en
wetenschapper
@nl
name
Dèlia Yubero
@ast
Dèlia Yubero
@en
Dèlia Yubero
@es
Dèlia Yubero
@nl
type
label
Dèlia Yubero
@ast
Dèlia Yubero
@en
Dèlia Yubero
@es
Dèlia Yubero
@nl
prefLabel
Dèlia Yubero
@ast
Dèlia Yubero
@en
Dèlia Yubero
@es
Dèlia Yubero
@nl
P106
P21
P31
P496
0000-0001-7742-0589