List of works - Rafael Artuch

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

scientific article published on 27 January 2017

A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry

scientific article published on 25 May 2018

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

scientific article published on 02 September 2019

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

scientific article published on 22 March 2019

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet

scientific article published on 4 December 2013

Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

scientific article

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

scientific article

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

scientific article

Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

scientific article published on 9 November 2016

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia ⬇️

scientific article published on 01 December 2002

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

scientific article published on 01 October 2019

Can folic acid have a role in mitochondrial disorders?

scientific article published on 13 July 2015

Cerebral folate deficiency: Analytical tests and differential diagnosis

scientific article published on 02 May 2019

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

scientific article published on 04 July 2018

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

scientific article published on 31 October 2014

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

scientific article published on 18 June 2013

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

scientific article published on 6 July 2013

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

scientific article published on 19 June 2015

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

scientific article published on 18 January 2017

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids

scientific article published on 02 April 2018

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article published on 28 July 2015

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

scientific article published on 23 October 2018

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

scientific article published on 24 June 2019

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.

scientific article published on 15 November 2016

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease ⬇️

scientific article published on June 1, 2012

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

scientific article published on 14 November 2019

Expanding the clinical phenotypes of MT-ATP6 mutations.

scientific article published on 30 June 2014

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

scientific article published on 10 December 2015

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

article

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

scientific article published on 11 February 2016

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

scientific article published on 25 March 2018

Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition

scientific article published on 13 May 2021

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

scientific article published on 4 May 2017

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects ⬇️

scientific article published on July 23, 2012

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant ⬇️

scientific article published on March 24, 2011

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

scientific article published on 9 November 2016

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

scientific article published on 31 March 2016

Increased urine methylmalonic acid excretion in infants with apnoeas ⬇️

scientific article published on February 1, 1998

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

scientific article published on 24 October 2019

Infectious stress triggers a POLG-related mitochondrial disease

scientific article published on 26 October 2019

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

scientific article published on 13 September 2019

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

scientific article published on 01 January 2019

Molecular diagnosis of coenzyme Q deficiency: an update

scientific article published on 30 May 2018

Molecular diagnosis of coenzyme Q10 deficiency.

scientific article published on 04 July 2015

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

scientific journal article

Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome ⬇️

scientific article published on January 1, 1998

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

scientific article published on 10 January 2019

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

scientific article published on 10 March 2015

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

scientific article published on 20 November 2013

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

Ndufs4 related Leigh syndrome: A case report and review of the literature.

scientific article published on 11 April 2016

Neurocognitive function in mild hyperphenylalaninemia ⬇️

scientific article published on March 21, 2011

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset ⬇️

scientific article published on May 26, 2012

Novel features in the evolution of adenylosuccinate lyase deficiency ⬇️

scientific article published on September 7, 2011

Plasma coenzyme Q status is impaired in selected genetic conditions

scientific article published in Scientific Reports

Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status

scientific article published on 26 August 2019

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption

scientific article published on 03 July 2019

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

scientific article published on 31 December 2008

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

scientific article published on 30 June 2016

Selective screening for hyperhomocysteinemia in pediatric patients ⬇️

scientific article published on 01 March 1998

Serum ubiquinone-10 in a pediatric population ⬇️

scientific article published on 01 November 1998

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

scientific article published on 27 May 2015

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

scientific article published on 21 December 2015

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

scientific article published on 5 January 2010

Synaptic metabolism and brain circuitries in inborn errors of metabolism

scientific article published on 01 November 2018

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

scientific article published on 13 January 2020

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

scientific article published on 9 February 2018

The Value of Mouse Models of Rare Diseases: A Spanish Experience

scientific article published on 14 October 2020

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

scientific article published on 14 February 2019

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

scientific article published on 18 July 2017

Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article

Treatment of genetic defects of thiamine transport and metabolism

scientific article published on 18 May 2016

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

scientific article published on 7 November 2017

White matter microstructural damage in early treated phenylketonuric patients

scientific article published on 26 October 2018

List of works by Rafael Artuch

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet

Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia ⬇️

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

Can folic acid have a role in mitochondrial disorders?

Cerebral folate deficiency: Analytical tests and differential diagnosis

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

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

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease ⬇️

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

Expanding the clinical phenotypes of MT-ATP6 mutations.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects ⬇️

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant ⬇️

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

Increased urine methylmalonic acid excretion in infants with apnoeas ⬇️

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

Infectious stress triggers a POLG-related mitochondrial disease

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Molecular diagnosis of coenzyme Q deficiency: an update

Molecular diagnosis of coenzyme Q10 deficiency.

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome ⬇️

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

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

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

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

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Neurocognitive function in mild hyperphenylalaninemia ⬇️

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset ⬇️

Novel features in the evolution of adenylosuccinate lyase deficiency ⬇️

Plasma coenzyme Q status is impaired in selected genetic conditions

Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

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

Selective screening for hyperhomocysteinemia in pediatric patients ⬇️

Serum ubiquinone-10 in a pediatric population ⬇️

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Synaptic metabolism and brain circuitries in inborn errors of metabolism

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

The Value of Mouse Models of Rare Diseases: A Spanish Experience

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Thiamine transporter-2 deficiency: outcome and treatment monitoring

Treatment of genetic defects of thiamine transport and metabolism

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

White matter microstructural damage in early treated phenylketonuric patients