about
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathyThiamine transporter-2 deficiency: outcome and treatment monitoringAnalysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.Clinical, etiological and therapeutic aspects of cerebral folate deficiency.Can folic acid have a role in mitochondrial disorders?Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.Ndufs4 related Leigh syndrome: A case report and review of the literature.Treatment of genetic defects of thiamine transport and metabolism.Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?Impaired Neurotransmission in Early-treated Phenylketonuria Patients.A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.Expanding the clinical phenotypes of MT-ATP6 mutations.Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1White matter microstructural damage in early treated phenylketonuric patientsPlasma coenzyme Q status is impaired in selected genetic conditionsMuscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseBiomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot StudyAZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care centerFrom gestalt to gene: early predictive dysmorphic features of PMM2-CDGMolecular diagnosis of coenzyme Q deficiency: an updateSynaptic metabolism and brain circuitries in inborn errors of metabolismCooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino AcidsCerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceLoss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseasePrevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin statusInducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
Rafael Artuch
@en
Rafael Artuch
@nl
type
label
Rafael Artuch
@en
Rafael Artuch
@nl
prefLabel
Rafael Artuch
@en
Rafael Artuch
@nl
P31
P496
0000-0002-3422-9685