– Polimorfismo Genético de la Tiopurina S-metiltransferasa: Implicancias en Farmacogenética. Laura E. Laróvere. En Farmacogenética y Medicina Personalizada en Latinoamérica. Luis A. Quinones y María A. Redal (Eds): Editorial Académica Española; 2020, pp 425-442. ISBN: 978-620-0-056443.
– Efficacy of oral citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience. Silvera Ruiz S, Grosso CL, Tablada M, Cabrera M, Dodelson de Kremer R, Juaneda E, Laróvere LE. Revista de la Facultad de Ciencias Médicas de Córdoba 2020, Dec 1;77(4):249-253. doi: 10.31053/1853.0605.v77.n4.27936. PMID: 33351387.
– Lesch–Nyhan disease and its variants: phenotypic and mutation spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency in Argentine patients. Laróvere LE, Fairbanks L, Jinnah HA, Guelbert NB, Escuredo E, Becerra A, Dodelson de Kremer R. Journal of Inborn Errors of Metabolism & Screening, 2021, Volume 9: e20200027 DOI: https://doi.org/10.1590/2326-4594-JIEMS-2020-0027.
– Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.GM Papazoglu, M Cubilla, M Pereyra, R Dodelson de Kremer, B Pérez, L Sturiale, CG Asteggiano. Glycoconjugate Journal, 2021, 38(2):191-200. DOI: 10.1007/s10719-021-09976-w.
– COG1-congenital disorders of glycosylation: Milder presentation and review. M Salazar, N Miyake, S Silva, B Solar, GM Papazoglu, CG Asteggiano, N Matsumoto. Clinical genetics, 2021. https://doi.org/10.1111/cge.13980
– Immune alterations in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report. Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Laróvere LE, Motrich RD. Frontiers in Immunology, section Primary Immunodeficiencies; Case Report, 2022. 13:861516. doi: 10.3389/fimmu.2022.861516
– Caino S, Cubilla MA, Alba R, et al. Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. Genes (Basel). 2022;13(11):2063. Published 2022 Nov 7. doi:10.3390/genes13112063
– Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, Becerra A, Peralta F, Dodelson De Kremer R, Laróvere LE.
Orphanet J Rare Dis. 2019 Aug, 14:203. doi: 10.1186/s13023-019-1177-3
– Mutation spectrum and genotype-phenotype correlation in a cohort of Argentine patients with ornithine transcarbamylase deficiency: a single center experience.
Laróvere LE, Silvera Ruiz SM, Arranz-Amo JA, Dodelson De Kremer R.
JIEMS (SAGE Publishing). 2018, Vol. 6:1–5. doi: 10.1177/2326409818813177
– Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Asteggiano CG, Papazoglu M, Bistué Millón MB, Peralta MF, Azar NB, Spécola NS, Guelbert N, Suldrup NS, Pereyra M, Dodelson de Kremer R.
Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6
– High-risk screening and diagnosis of Inborn Errors of Metabolism: A practical guide for laboratories.
Gabriel Civallero, Raquel de Kremer and Roberto Giugliani
JIEMS 2018, Vol. 6: 1–6. doi: 10.1177/232640981879206
– Juvenile form of Sandhoff disease: first case reported in Argentina.
Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña CE, Oller Ramírez AM.
Arch Argent Pediatr. 2017 Oct 1;115(5):e298-e301. doi: 10.5546/aap.2017.e298
– Creatine metabolism: detection of creatine and guanidinoacetate in saliva of healthy subjects.
Martínez LD, Bezard M, Brunotto M, Dodelson de Kremer R.
Acta Odontol Latinoam. 2016 Apr;29(1):49-53. PubMed PMID: 27701498
– P5CDH affects the pathways contributing to Pro synthesis after ProDH activation by biotic and abiotic stress conditions.
Rizzi Y, Monteoliva M, Fabro G, Grosso CL, Laróvere LE, Alvarez ME.
Front Plant Sci 2015 Jul 28;6 :572. doi: 10.3389/fpls.2015.00572.eCollection 2015
– Evaluación de las neuroimágenes y descripción del compromiso multisistémico en una familia con enfermedad de Fabry.
Guelbert N, Politei J, Szlago M, Robledo H, Lescano S, Giner de Ayala A, Angaroni C.
Neurol Arg 2015;7:100-4. http://dx.doi.org/10.1016/j.neuarg.2015.01.002
– Impact of CPS1 gene rs7422339 polymorphism in Argentine patients with hyperhomocysteinemia.
Silvera-Ruiz SM, Grosso CL, Dodelson de Kremer R, Laróvere LE.
JIEMS 2015:1-4. doi 10.1177/2326409815586253
– Perception of the usefulness of drug/gene pairs and barriers for pharmacogenomics in Latin America.
Quinones LA, Lavanderos MA, Cayun JP, Garcia-Martin E, Agundez JA, Caceres DD,Roco AM, Morales JE, Herrera L, Encina G, Isaza CA, Redal MA, Larovere L, Soria NW, Eslava-Schmalbach J, Castaneda-Hernandez G, Lopez-Cortes A, Magno LA, Lopez M, Chiurillo MA, Rodeiro I, Castro de Guerra D, Teran E, Estevez-Carrizo F, Lares-Assef I.
Curr Drug Metab. 2014 Feb;15(2):202-8. PubMed PMID: 24524664
– A broad spectrum of genomic changes in latinoamerican patients with EXT1/EXT2-CDG.
Delgado MA, Martínez-Domenech G, Sarrion P, Urreizti R, Zecchini L, Robledo HH, Segura F, Dodelson de Kremer R, Balcells S, Grinberg D, Asteggiano CG.
Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407
– Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses.
Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA
Arch Argent Pediatr. 2015 Apr;113(2):e109-12. doi: 10.5546/aap.2015.xx
– Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O’Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group.
Brain. 2014 May;137(Pt 5):1282-303. Review. doi: 10.1093/brain/awt202
– MAN1B1 deficiency: An unexpected CDG-II.
Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G.
PLOS Genetics 2013; 9:e1003989. doi: 10.1371/journal.pgen.1003989
– Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D.
Scientific Reports 2013;3:1346. doi: 10.1038/srep01346
– Enfermedad de Gaucher en Argentina. Un informe del Registro Internacional de Gaucher y del grupo Argentino de diagnóstico y tratamiento de la Enfermedad de Gaucher.
Drelichman G, Fernández Escobar N, Basack N, Aversa L, Kohan R, Watman N, Bolesina M, Elena G, Veber SE, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramírez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroude MS, Masllorens FM, Szlago M, Schenone AB.
Hematología 2013;17:4-16.
– Consenso para la Enfermedad de Gaucher: Grupo Argentino de diagnóstico y tratamiento de la Enfermedad de Gaucher.
Drelichman G, Basack N, Fernández Escobar N, Watman N, Bolesina M, Elena G, Veber SE, Kohan R, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramírez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroude MS, Masllorens FM, Szlago M, Schenone AB, Aguilar G, Volpacchio M.
Hematología 2013;17:25-60.
– Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I.
Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058
– Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A.
PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516
– X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.
Amorosi CA, Myskóva H, Monti MR, Argaraña CE, Morita M, Kemp S, Dodelson de Kremer R, Dvoráková L, Oller de Ramírez AM.
PloS One. 2012;7(12):e52635. doi: 10.1371/journal.pone.0052635
– A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.
Delgado MA, Sarrión P, Azar N, Zecchini L, Robledo HH, Segura F, Balcells S, Grinberg D, Dodelson de Kremer R, Asteggiano CG.
J Bone Joint Surg Am. 2012 Jun 6;94(11):e76. doi: 10.2106/JBJS.J.01920
– Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
Laróvere LE, Ruiz SM, Angaroni CJ, de Kremer RD.
JIMD Rep. 2012;6:27-9. doi: 10.1007/8904_2012_127
– Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
Millón MB, Delgado MA, Azar NB, Guelbert N, Sturiale L, Garozzo D, Matthijs G, Jaeken J, de Kremer RD, Asteggiano CG.
JIMD Rep. 2011;1:65-72. doi: 10.1007/8904_2011_18
– Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S.
Hum Mutat. 2011 Jul;32(7):835-42. doi: 10.1002/humu.21514
– Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.
Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. Review. doi: 1389-2010/11 $58.00+.00
– Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA.
Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9
– The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4
– Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Angaroni CJ, Giner-Ayala AN, Hill LP, Guelbert NB, Paschini-Capra AE, Dodelson de Kremer R.
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi:10.1007/s10545-010-9139-x
– Attenuated variants of Lesch-Nyhan disease.
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 for the Lesch-Nyhan Disease International Study Group.
Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013
– Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.
Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186
– Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Amorosi CA, Treslova H, Dodelson de Kremer R, Coll MJ, Dvoráková L, Oller Ramírez AM.
Hum Genet. 2010 Apr;127(4):486. PubMed PMID: 21488311