Lista de obras - Antonia Ribes - Dominio Público Uruguay

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

artículo científico publicado en 2011

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

artículo científico publicado en 2016

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Cervical length and gestational age at admission as predictors of intra-amniotic inflammation in preterm labor with intact membranes

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency

artículo científico publicado en 2012

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

scientific article published in 2022

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

artículo científico publicado en 2010

Discovery of a novel noniminosugar acid α glucosidase chaperone series

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Epilepsy spectrum in cerebral creatine transporter deficiency

artículo científico publicado en 2009

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

artículo científico publicado en 2013

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

scientific article published on 01 December 2018

Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form

artículo científico publicado en 2008

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

artículo científico publicado en 2016

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

artículo científico publicado en 2012

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

artículo científico publicado en 2004

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

artículo científico publicado en 2009

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

artículo científico publicado en 2019

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

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

artículo científico publicado en 2013

Neonatal Screening for Inherited Metabolic Diseases in 2016.

artículo científico publicado en 2016

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

artículo científico publicado en 2012

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

artículo científico publicado en 2013

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

artículo científico publicado en 2009

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

artículo científico publicado en 2016

Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes

artículo científico publicado en 2009

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

artículo científico publicado en 2008

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue ⬇️

artículo científico publicado el 22 de junio de 2011

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

artículo científico publicado en 2014

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Role of creatine as biomarker of mitochondrial diseases

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Secondary disorders of glycosylation in inborn errors of fructose metabolism

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

artículo científico publicado en 2008

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

artículo científico publicado en 2016

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

artículo científico publicado en 2008

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

artículo científico

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

artículo científico publicado en 2013

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency ⬇️

artículo científico publicado el 28 de julio de 2010

Lista de obras de Antonia Ribes

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Cervical length and gestational age at admission as predictors of intra-amniotic inflammation in preterm labor with intact membranes

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.

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Discovery of a novel noniminosugar acid α glucosidase chaperone series

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

Epilepsy spectrum in cerebral creatine transporter deficiency

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal

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

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

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

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

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

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

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

Neonatal Screening for Inherited Metabolic Diseases in 2016.

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue ⬇️

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

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

Role of creatine as biomarker of mitochondrial diseases

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.

Secondary disorders of glycosylation in inborn errors of fructose metabolism

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

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

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

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency ⬇️