Marcela Pereyra

Most-cited papers

1. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

   C. Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, M. Peralta +6 more

   2018Pediatric Research24 citations Open access

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2. Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

   S. Poloni, B. B. dos Santos, A. Chiesa, N. Specola +23 more

   2021Nutrients16 citations Open access

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3. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis

   G. M. Papazoglu, M. Cubilla, Marcela Pereyra, R. D. de Kremer +3 more

   2021Glycoconjugate Journal10 citations Open access

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4. Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification

   Lía Mayorga, Sergio R. Laurito, M. Loos, H. Eiroa +6 more

   2016Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis8 citations Open access

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5. Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.

   Jimena Dri, Eugénia Neves Dos Santos, Marcela Pereyra, M. J. Guillamondegui +3 more

   2023Archivos Argentinos de Pediatria3 citations Open access

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6. Recommendations on the initial management of acute hyperammonemia in pediatrics.

   H. Eiroa, C. Durand, M. Szlago, Marcela Pereyra +4 more

   2022Archivos Argentinos de Pediatria2 citations Open access

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7. [Juvenile form of Sandhoff disease: first case reported in Argentina].

   J. Mugnaini, Marcela Pereyra, Raquel Dodelson de Kremer, B. Gamboni +2 more

   2017Archivos Argentinos de Pediatria2 citations Open access

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8. Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I

   J. Garrahan, División Cardiología, Ricardo Gutiérrez, Ricardo Gutiérrez +182 more

   2021Archivos Argentinos de Pediatria1 citations Open access

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9. WCN25-608 FABRY DISEASE NEPHROPATHY: BIOMARKERS IN PATIENTS ON ENZYME REPLACEMENT THERAPY

   F. Perretta, J. Politei, Santiago Alonso, Gustavo Cabrera +1 more

   2025Kidney International Reports0 citations Open access

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10. A few challenges in mucopolysaccharidosis type I.

    L. Bay, H. Amartino, Alejandra Antacle, C. Arberas +19 more

    2021Archivos Argentinos de Pediatria0 citations Open access

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