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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1282-1303

2014

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Attenuated variants of Lesch-Nyhan disease

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.671-689

2010

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Delineation of the motor disorder of Lesch–Nyhan disease

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1201-1217

2006

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Frontiers in immunology, 2022-05, Vol.13

2022

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.203-203, Article 203

2019

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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants

Human genetics, 2011-01, Vol.129 (1), p.71-78

2011

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P5CDH affects the pathways contributing to Pro synthesis after ProDH activation by biotic and abiotic stress conditions

Frontiers in plant science, 2015-07, Vol.6, p.572-572

2015

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Lipids and DNA oxidation in Staphylococcus aureus as a consequence of oxidative stress generated by ciprofloxacin

Molecular and cellular biochemistry, 2006-04, Vol.285 (1-2), p.29-34

2006

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Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

Journal of inborn errors of metabolism and screening, 2018, Vol.6, p.232640981881317

2018

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Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience

Revista de la Facultad de Ciencias Médicas de Córdoba, 2020-12, Vol.77 (4), p.249-253

2020

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

Metabolic brain disease, 2002-03, Vol.17 (1), p.13-18

2002

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Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

JIMD Reports - Case and Research Reports, 2012/3, 2012-01, Vol.6, p.27-29

2012

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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

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Citrullinemia Type I, Classical Variant. Identification of A beta p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Clinical biochemistry, 2009-07, Vol.42 (10-11), p.1166-1168

2009

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A Glutathione Derivative with Chelating and in vitro Neuroprotective Activities: Synthesis, Physicochemical Properties, and Biological Evaluation

ChemMedChem, 2013-11, Vol.8 (11), p.1818-1829

2013

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(R)-α-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities

ChemMedChem, 2012-11, Vol.7 (11), p.2021-2029

2012

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Genetic polymorphism of thiopurine S-methyltransferase in Argentina

Annals of clinical biochemistry, 2003-07, Vol.40 (Pt 4), p.388

2003

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(R)-[alpha]-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities

ChemMedChem, 2012-11, Vol.7 (11), p.2021

2012

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Frontiers in immunology, 2022, Vol.13, p.861516-861516

2022

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Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Clinical biochemistry, 2009-07, Vol.42 (10), p.1166-1168

2009

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Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Journal of inborn errors of metabolism and screening, 2015-12, Vol.3, p.232640981558625

2015

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Cerebrospinal fluid purines, pyrimidines, organic acids and amino acids in neonatal citrullinaemia

Advances in experimental medicine and biology, 2000, Vol.486, p.97

2000

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Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina), 2020-12, Vol.77 (4), p.249

2020

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Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster

Clinical biochemistry, 2009-07, Vol.42 (10-11), p.1166-1168

2009

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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Attenuated variants of Lesch-Nyhan disease

Delineation of the motor disorder of Lesch–Nyhan disease

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants

P5CDH affects the pathways contributing to Pro synthesis after ProDH activation by biotic and abiotic stress conditions

Lipids and DNA oxidation in Staphylococcus aureus as a consequence of oxidative stress generated by ciprofloxacin

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

Perception of the usefulness of drug/gene pairs and barriers for pharmacogenomics in Latin America

Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Citrullinemia Type I, Classical Variant. Identification of A beta p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster

A Glutathione Derivative with Chelating and in vitro Neuroprotective Activities: Synthesis, Physicochemical Properties, and Biological Evaluation

(R)-α-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities

Genetic polymorphism of thiopurine S-methyltransferase in Argentina

(R)-[alpha]-Lipoyl-Glycyl-L-Prolyl-L-Glutamyl Dimethyl Ester Codrug as a Multifunctional Agent with Potential Neuroprotective Activities

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Cerebrospinal fluid purines, pyrimidines, organic acids and amino acids in neonatal citrullinaemia

Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster

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