Publications by authors named "Laura Larovere"

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"Case report": Whole-exome sequencing reveals compound heterozygous variants in the gene in a familial case of vanishing white matter.
Sofía Savy, Francisco A Montes, Carola L Grosso, Laura E Laróvere, Silene M Silvera-Ruiz

Front Genet· November 2025

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Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.
Silene M Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Laura E Larovere

Front Immunol· June 2022

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Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience.
Silene Silvera Ruiz, Carola L Grosso, Margot Tablada, Marcelo Cabrera, Raquel Dodelson de Kremer

Rev Fac Cien Med Univ Nac Cordoba· December 2020

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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silene M Silvera-Ruiz, José A Arranz, Johannes Häberle, Celia J Angaroni, Miriam Bezard

Orphanet J Rare Dis· August 2019

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P5CDH affects the pathways contributing to Pro synthesis after ProDH activation by biotic and abiotic stress conditions.
Yanina S Rizzi, Mariela I Monteoliva, Georgina Fabro, Carola L Grosso, Laura E Laróvere

Front Plant Sci· August 2015

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Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Rong Fu, Irene Ceballos-Picot, Rosa J Torres, Laura E Larovere, Yasukazu Yamada

Brain· May 2014

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Perception of the usefulness of drug/gene pairs and barriers for pharmacogenomics in Latin America.
Luis Abel Quinones, Maria Alejandra Lavanderos, Juan Pablo Cayun, Elena Garcia-Martin, Jose Augusto Agundez, Laura Larovere

Curr Drug Metab· February 2014

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Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
Laura E Laróvere, Silene M Silvera Ruiz, Celia J Angaroni, Raquel Dodelson de Kremer

JIMD Rep· February 2013

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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Radhika Sampat, Rong Fu, Laura E Larovere, Rosa J Torres, Irene Ceballos-Picot

Hum Genet· January 2011

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Attenuated variants of Lesch-Nyhan disease.
H A Jinnah, Irene Ceballos-Picot, Rosa J Torres, Jasper E Visser, David J Schretlen

Brain· March 2010

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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.
Laura E Laróvere, Celia J Angaroni, Sandra L Antonozzi, Miriam B Bezard, Mariko Shimohama

Clin Biochem· July 2009

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Delineation of the motor disorder of Lesch-Nyhan disease.
H A Jinnah, Jasper E Visser, James C Harris, Alfonso Verdu, Laura Larovere

Brain· May 2006

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Lipids and DNA oxidation in Staphylococcus aureus as a consequence of oxidative stress generated by ciprofloxacin.
María Cecilia Becerra, Paulina Laura Páez, Laura E Laróvere, Inés Albesa

Mol Cell Biochem· April 2006

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Raquel Dodelson de Kremer, Alexandra Latini, Terttu Suormala, E Regula Baumgartner, Laura Laróvere

Metab Brain Dis· March 2002

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