Á. Arias

发表

Defining the pathogenicity of creatine deficiency syndrome

E. Richard, A. Ribes, B. Merinero, 2011, Human mutation.

Creatine transporter deficiency in two adult patients with static encephalopathy

A. Ribes, B. Merinero, R. Artuch, 2009, Journal of Inherited Metabolic Disease.

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

A. Ribes, B. Merinero, R. Artuch, 2010, Journal of Inherited Metabolic Disease.

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

A. Ribes, A. Ormazabal, R. Artuch, 2007, Clinical biochemistry.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

A. Ribes, R. Artuch, M. Pineda, 2010, Molecular genetics and metabolism.

Arginine supplementation in four patients with X-linked creatine transporter defect

A. Ribes, R. Artuch, M. Pineda, 2008, Journal of Inherited Metabolic Disease.

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

A. Ribes, R. Artuch, P. Póo-Argüelles, 2006, Journal of Inherited Metabolic Disease.

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

A. Ribes, J. García-Villoria, Á. Arias, 2004, Molecular genetics and metabolism.

Creatine as Biomarker

A. Ribes, J. García-Villoria, Á. Arias, 2019, Biomarkers in Disease: Methods, Discoveries and Applications.

Methods for the diagnosis of creatine deficiency syndromes: A comparative study

A. Ribes, A. Ormazabal, R. Artuch, 2006, Journal of Neuroscience Methods.

Role of creatine as biomarker of mitochondrial diseases.

A. Ribes, P. Briones, J. García-Villoria, 2013, Molecular genetics and metabolism.

Epilepsy spectrum in cerebral creatine transporter deficiency

A. Ribes, B. Merinero, F. Sanmartí, 2009, Epilepsia.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

A. Ribes, L. Matalonga, L. Gort, 2014, Journal of Inherited Metabolic Disease.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Robert W. Taylor, J. A. Arranz, F. Tort, 2016, Mitochondrion (Amsterdam. Print).

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

F. Tort, A. Ribes, R. Artuch, 2014, Human molecular genetics.

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency[S]

A. Ribes, E. Ros, M. Girós, 2015, Journal of Lipid Research.

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

S. Seneca, P. Navas, A. Ribes, 2014, Journal of Inherited Metabolic Disease.

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

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.

A. Ribes, P. Briones, J. García-Villoria, 2012, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

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

A. Ribes, R. Artuch, N. Darín, 2016, Brain : a journal of neurology.

Treatment of genetic defects of thiamine transport and metabolism

R. Artuch, B. Pérez-Dueñas, L. Martí-Sánchez, 2016, Expert review of neurotherapeutics.

Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

L. Gort, Á. Arias, Carla Ruiz-Andrés, 2017, JIMD reports.

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

F. Tort, A. Ribes, L. Matalonga, 2015, Neurotherapeutics.

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

S. Beltran, F. Tort, A. Ribes, 2019, Human mutation.

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

A. Ormazabal, R. Artuch, R. Urreizti, 2023, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry.

A. Ribes, J. M. Hernández-Pérez, J. García-Villoria, 2013, Clinical biochemistry.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

J. A. Arranz, F. Tort, A. Ribes, 2016, Mitochondrion.

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

S. Seneca, P. Navas, A. Ribes, 2014, Journal of Inherited Metabolic Disease.