SILENE M. SILVERA RUIZ; CORINNE GEMPERLE; NATALIA PEANO; VALENTINA OLIVERO; ADRIANA BECERRA; JOHANNES HÄBERLE; ADRIANA GRUPPI; L.E. LARÓVERE; RUBEN D MOTRICH

Phenotypic and functional immune alterations in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Frontiers in Immunology; Año: 2022

LE LARÓVERE; L.D. FAIRBANKS; H. A. JINNAH; N GUELBERT; E ESCUDERO ; A BECERRA ; R DODELSON DE KREMER

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; Año: 2021

LAURA E. LARÓVERE

Efficacy of oral 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; Lugar: Córdoba; Año: 2020 vol. 2020 p. 249 - 253

SILVERA-RUIZ, SILENE M.; ARRANZ, JOSÉ A.; HÄBERLE, JOHANNES; ANGARONI, CELIA J.; BEZARD, MIRIAM; GUELBERT, NORBERTO; BECERRA, ADRIANA; PERALTA, FERNANDA; DE KREMER, RAQUEL DODELSON; LARÓVERE, LAURA E.

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

ORPHANET JOURNAL OF RARE DISEASES; Lugar: Londres; Año: 2019 vol. 14

LARÓVERE LAURA ELENA; SILVERA RUIZ SM; ARRANZ-AMO JA; DODELSON DE KREMER R

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; Año: 2018

SILENE M. SILVERA RUIZ; CAROLA L GROSSO; RAQUEL DODELSON DE KREMER; LARÓVERE LAURA ELENA

Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Journal of Inborn Errors of Metabolism and Screening; Año: 2015 vol. 3 p. 1 - 4

RIZZI YS; MONTEOLIVA MI; FABRO G; CAROLA L GROSSO; LARÓVERE LAURA ELENA; ALVAREZ ME

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

Frontiers in Plant Science; Año: 2015 vol. 6 p. 1 - 11

RONG FU; CEBALLOS PICOT I; ROSA J. TORRES; LAURA E. LAROVERE; YASUKAZU YAMADA; KHUE V. NGUYEN; MADHURI HEGDE; JASPER E. VISSER; DAVID J. SCHRETLEN; WILLIAM L. NYHAN,; JUAN G. PUIG; PATRICK J. O?NEILL; H. A. JINNAH

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

Lugar: Oxford; Año: 2014 p. 1282 - 1303

QUIÑONES LA; LAVANDEROS MA; CAYÚN JP; GARCÍA-MARTIN E; AGÚNDEZ JA; CÁCERES DD; ROCO AM; MORALES JE; HERRERA L; ENCINA G; ISAZA C; REDAL MA; LARÓVERE LAURA ELENA; SORIA NW; ESLAVA-SCHMALBACH J; CASTAÑEDA-HERNÁNDEZ G; LÓPEZ-CORTÉS A; MAGNO LA; LÓPEZ M; CHIURILLO M; RODEIRO I; CASTRO DE GUERRA D; TERÁN E; ESTEVEZ-CARRIZO, F; LARES-ASSEF I

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

CURRENT DRUG METABOLISM; Lugar: Oak Park; Año: 2014 vol. 15 p. 202 - 208

LAURA E. LARÓVERE; SILENE M. SILVERA RUIZ; CELIA J. ANGARONI; RAQUEL DODELSON DE KREMER

Molecular epidemiology of Citrullinemia type I in a risk region of Argentina: A first step to preconception heterozygote detection

Journal of inherited metabolic disorders reports; Lugar: Berlin; Año: 2012 vol. 6 p. 27 - 29

SAMPAT R; FU R; LAROVERE LE; TORRES RJ; CEBALLOS-PICOT I; FISCHBACH M; DE KREMER R; SCHRETLEN DJ; PUIG JG; JINNAH HA

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

Lugar: Berlín; Año: 2011 vol. 129 p. 71 - 78

JINNAH HA ; CEBALLOS-PICOT I; TORRES RJ; VISSER JE; SCHRETLEN DJ; VERDU A; LARÓVERE LE; CHEN CJ; COSSU A; WU CH; SAMPAT R; CHANG SJ; DE KREMER RD; NYHAN W; HARRIS JC; REICH SG; PUIG JG

Attenuated variants of Lesch-Nyhan disease

Año: 2010 vol. 133 p. 671 - 689

LARÓVERE LE; ANGARONI CJ; ANTONOZZI SL; BEZARD MB; SHIMOHAMA M,; DODELSON DE KREMER R

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

Año: 2009 vol. 42 p. 1166 - 1168

AMARTINO H; AUTORES VARIOS; LARÓVERE LE; GRUPO ARGENTINO DE DIAGNÓSTICO Y TRATAMIENTO DE LA ENFERMEDAD DE FABRY (GADYTEF)

Primera Actualización: Guía práctica para el estudio, diagnóstico y tratamiento de la enfermedad de Fabry

Año: 2007 vol. 27 p. 159 - 170

LE LARÓVERE; JP ONEILL; M RANDALL; LD FAIRBANKS; N GUELBERT; L CZORNYJ; R DODELSON DE KREMER

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients

Año: 2007 vol. 26 p. 255 - 258

ANGARONI C; VARIOS COAUTORES; LARÓVERE L; Y COL

Guía práctica para el diagnóstico, tratamiento y seguimiento de la enfermedad de Fabry. Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Fabry

Nefrología Argentina; Lugar: Buenos Aires; Año: 2006 vol. 2006 p. 128 - 138

HA JINNAH; JE VISSER; JC HARRIS; A VERDU; L LARÓVERE; AUTORES VARIOS

Delineation of the motor disorder of Lesch-Nyhan disease

Lugar: Londres; Año: 2006 vol. 129 p. 1201 - 1217

MC BECERRA; PL PAEZ; LE LARÓVERE; I ALBESA

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

Lugar: La Haya; Año: 2006 vol. 285 p. 29 - 34

L.E. LARÓVERE; N. ROMERO; L.D. FAIRBANKS; C. CONDE; N. GUELBERT; A.L. ROSA ; R. DODELSON DE KREMER

A novel missense mutation, 584A>C (S195Y), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant

Lugar: Orlando; Año: 2004 vol. 81 p. 352 - 354

LE LARÓVERE ; R DODELSON DE KREMER; LH LAMBOOY; RA DE ABREU

Genetic polymorphism of Thiopurine S-methyltransferase in Argentina

Lugar: Londres; Año: 2003 vol. 40 p. 388 - 393

DODELSON DE KREMER R ; LATINI A; SUORMALA T; BAUMGARTNER ER; LARÓVERE L; CIVALLERO G; GUELBERT N; PASCHINI-CAPRA A; DEPETRIS-BOLDINI C; QUIROGA C

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

Lugar: New York; Año: 2002 vol. 17 p. 13 - 18

LATINI A ; LARÓVERE L; DODELSON-KREMER R

Purines, lactate and myo-inositol in CSF may reflect excitotoxicity in inherited metabolic disorders

Lugar: Nueva York; Año: 2001 vol. 486 p. 91 - 95

LARÓVERE L ; LATINI A; BOLDINI C; CORONEL CE; DODELSON-KREMER R

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

Lugar: Nueva York; Año: 2001 vol. 486 p. 97 - 101