Publications by authors named "Norberto Guelbert"

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UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression.
Ana Clara Venier, Sofía Savy, Gerardo Carro, Guillermo Guelbert, Ezequiel Grondona, Norberto Guelbert

Hum Mol Genet· June 2025

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Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality of life and adherence.
Guillermo Drelichman, Juan M Politei, Nicolás Fernandez Escobar, Barbara Soberón, Nora Basack, Norberto Guelbert

Mol Genet Metab· May 2025

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Corrigendum to "Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa." [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060].
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Guillermo Guelbert

Mol Genet Metab Rep· December 2024

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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Guillermo Guelbert

Mol Genet Metab Rep· March 2024

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Melissa P Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C Gallagher, Norberto Bernardo Guelbert

Orphanet J Rare Dis· December 2023

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Initial management of acute hyperammonemia in pediatrics.
Hernán Eiroa, Consuelo Durand, Marina Szlago, Marcela Pereyra, Mariana Nuñez, Norberto Guelbert

Arch Argent Pediatr· June 2023

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Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Norberto Guelbert

Front Neurol· August 2022

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A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Norberto Bernardo Guelbert

Genet Med· July 2022

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Management of CLN1 Disease: International Clinical Consensus.
Erika F Augustine, Heather R Adams, Emily de Los Reyes, Kristen Drago, Margie Frazier, Norberto Guelbert

Pediatr Neurol· July 2021

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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Eva Wibbeler, Raymond Wang, Emily de Los Reyes, Nicola Specchio, Paul Gissen, Norberto Guelbert

J Child Neurol· May 2021

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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Charles M Lourenço, Andre Pessoa, Carmen C Mendes, Carolina Rivera-Nieto, Diane Vergara, Norberto Guelbert

J Paediatr Child Health· April 2021

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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Sara E Mole, Angela Schulz, Eben Badoe, Samuel F Berkovic, Emily C de Los Reyes, Norberto Guelbert

Orphanet J Rare Dis· April 2021

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Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Juan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz

JIMD Rep· March 2021

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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Sarah H Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John Mitchell, Norberto Guelbert

Hum Mutat· September 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, Norberto Guelbert

Orphanet J Rare Dis· August 2019

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Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Carla Gabriela Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, María Fernanda Peralta, Nydia Beatriz Azar, Norberto Guelbert

Pediatr Res· December 2018

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Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America.
Juan M Politei, Gisel Gordillo-González, Norberto B Guelbert, Carolina F Moura de Souza, Charles M Lourenço

J Pain Symptom Manage· July 2018

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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, Norberto Guelbert

Mol Genet Metab· February 2018

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Management Strategies for CLN2 Disease.
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Norberto Guelbert

Pediatr Neurol· April 2017

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Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Norberto Guelbert

Biochim Biophys Acta Mol Basis Dis· February 2017

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Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
Christian J Hendriksz, Kenneth I Berger, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Norberto Guelbert

J Inherit Metab Dis· November 2016

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Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.
Guillermo Drelichman, Nicolás Fernández Escobar, Nora Basack, Luis Aversa, María Silvia Larroude, Norberto Guelbert

Am J Hematol· October 2016

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Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, Norberto Guelbert

Mol Genet Metab· September 2016

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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Nouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert

Orphanet J Rare Dis· October 2015

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[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
Juan Politei, Andrea B Schenone, Norberto Guelbert, Alejandro Fainboim, Marina Szlago

Arch Argent Pediatr· August 2015

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