List of works - Angela Arias

Analysis of coenzyme Q10 in lymphocytes by HPLC–MS/MS

scientific article published in November 2012

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

scientific article

Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene

scientific article published on 5 November 2009

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

scientific article published on 18 June 2013

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

scientific article

Concentration of thyrotropic hormone and free thyroxin in children with Down's syndrome

scientific article published in June 2001

Creatine transporter deficiency in two adult patients with static encephalopathy.

scientific article published on 25 March 2009

Defining the pathogenicity of creatine deficiency syndrome.

scientific article published on 8 February 2011

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

scientific article published on 10 December 2015

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

scientific article published in July 2004

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

scientific article published on 15 October 2012

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

scientific article published in September 2006

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

Role of creatine as biomarker of mitochondrial diseases

scientific article

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

scientific article published on 30 June 2016

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

scientific article published on 5 January 2010

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

scientific article published on 18 December 2013

List of works by Angela Arias

Analysis of coenzyme Q10 in lymphocytes by HPLC–MS/MS

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

Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene

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

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

Concentration of thyrotropic hormone and free thyroxin in children with Down's syndrome

Creatine transporter deficiency in two adult patients with static encephalopathy.

Defining the pathogenicity of creatine deficiency syndrome.

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

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

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

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

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

Role of creatine as biomarker of mitochondrial diseases

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

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

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease