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N. Guelbert · SciRah

Researcher profile · Semantic Scholar

N. Guelbert

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N. Guelbert — researcher profile on SciRah

h-index: 21
Works: 67
Citations: 1,219

Most-cited papers

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
P. Harmatz, K. Mengel, R. Giugliani, V. Valayannopoulos +13 more
2013Molecular Genetics and Metabolism142 citations Open access
Semantic Scholar
Management Strategies for CLN2 Disease.
Ruth E. Williams, Heather R. Adams, M. Blohm, J. Cohen-Pfeffer +22 more
2017Pediatric Neurology106 citations Open access
Semantic Scholar
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
M. Wasserstein, R. Lachmann, C. Hollak, Laila Arash-Kaps +17 more
2022Genetics in Medicine77 citations Open access
Semantic Scholar
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
N. Al-Sannaa, L. Bay, Deborah S Barbouth, Youssef Benhayoun +10 more
2015Orphanet Journal of Rare Diseases72 citations Open access
Semantic Scholar
Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses
R. Kohan, I. A. Cismondi, A. Oller-Ramírez, N. Guelbert +5 more
2011Current Pharmaceutical Biotechnology61 citations Open access
Semantic Scholar
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
C. Hendriksz, R. Parini, M. AlSayed, J. Raiman +13 more
2016Molecular Genetics and Metabolism60 citations Open access
Semantic Scholar
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
R. Giugliani, Martha Luz Solano Villarreal, C. Valdez, Antonieta Mahfoud Hawilou +8 more
2014Genetics and Molecular Biology53 citations Open access
Semantic Scholar
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
S. Tomatsu, T. Dieter, I. Schwartz, Piedad Sarmient +11 more
2004Journal of Human Genetics52 citations
Semantic Scholar
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
S. Mole, A. Schulz, E. Badoe, S. Berkovic +17 more
2020Orphanet Journal of Rare Diseases50 citations Open access
Semantic Scholar
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
R. Kohan, María Noelia Carabelos, Winnie W. Xin, K. Sims +10 more
2012Gene46 citations Open access
Semantic Scholar
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
P. Harmatz, K. Mengel, R. Giugliani, V. Valayannopoulos +14 more
2015Molecular Genetics and Metabolism41 citations Open access
Semantic Scholar
Acid Ceramidase Deficiency is Characterized by a Unique Plasma Cytokine and Ceramide Profile that is Altered by Therapy
Shaalee Dworski, P. Lu, Aneal Khan, B. Maranda +23 more
2016Biochimica et Biophysica Acta - Molecular Basis of Disease37 citations Open access
Semantic Scholar
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.
C. Hendriksz, R. Parini, M. AlSayed, J. Raiman +10 more
2017Molecular Genetics and Metabolism33 citations Open access
Semantic Scholar
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
C. Hendriksz, K. Berger, R. Parini, M. AlSayed +11 more
2016Journal of Inherited Metabolic Disease32 citations Open access
Semantic Scholar
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
R. Kohan, F. Pesaola, N. Guelbert, P. Pons +7 more
2015Biochimica et Biophysica Acta29 citations Open access
Semantic Scholar
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients
R. Kohan, IA Cismondi, R. Kremer, Vj Muller +5 more
2009Clinical Genetics29 citations
Semantic Scholar
Management of CLN1 Disease: International Clinical Consensus.
Erika F. Augustine, Heather R. Adams, E. C. de los Reyes, Kristen Drago +14 more
2021Pediatric Neurology28 citations Open access
Semantic Scholar
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
C. Lourenço, A. Pessoa, C. Mendes, Carolina Rivera-Nieto +12 more
2020Journal of Paediatrics and Child Health27 citations Open access
Semantic Scholar
Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency
R. D. de Kremer, A. Latini, T. Suormala, E. Baumgartner +6 more
2002Metabolic brain disease27 citations
Semantic Scholar
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
Semantic Scholar
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
M. Wasserstein, R. Lachmann, C. Hollak, A. Barbato +17 more
2023Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
S. Elsea, A. Sólyom, Kirt Martin, P. Harmatz +20 more
2020Human Mutation21 citations Open access
Semantic Scholar
Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients
G. Drelichman, Nicolás Fernández Escobar, N. Basack, L. Aversa +81 more
2016American journal of hematology/oncology21 citations Open access
Semantic Scholar
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
E. Wibbeler, Raymond Y. Wang, E. C. de los Reyes, N. Specchio +12 more
2020Journal of Child Neurology16 citations Open access
Semantic Scholar
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
S. Silvera-Ruiz, J. A. Arranz, J. Häberle, C. Angaroni +6 more
2019Orphanet Journal of Rare Diseases13 citations Open access
Semantic Scholar
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes
J. Politei, G. L. Porras-Hurtado, N. Guelbert, A. Fainboim +2 more
2021JIMD Reports11 citations Open access
Semantic Scholar
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
C. Angaroni, A. Giner-Ayala, L. P. Hill, N. Guelbert +2 more
2010Journal of Inherited Metabolic Disease11 citations
Semantic Scholar
Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America.
J. Politei, G. Gordillo-González, N. Guelbert, C. D. de Souza +5 more
2018Journal of Pain and Symptom Management10 citations Open access
Semantic Scholar
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
Guillermo Guelbert, Ana Clara Venier, I. A. Cismondi, Adriana Becerra +6 more
2022Frontiers in Neurology9 citations Open access
Semantic Scholar
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa
N. Guelbert, Ó. M. Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga +31 more
2024Molecular Genetics and Metabolism Reports8 citations Open access
Semantic Scholar
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.
F. Pesaola, R. Kohan, I. A. Cismondi, N. Guelbert +3 more
2019Revista de neurología (Ed. impresa)8 citations
Semantic Scholar
[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
J. Politei, A. Schenone, N. Guelbert, A. Fainboim +1 more
2015Archivos Argentinos de Pediatria8 citations Open access
Semantic Scholar
[Guidelines for diagnosis, monitoring and treatment of Fabry disease].
Pablo Neumann, N. Antongiovanni, A. Fainboim, I. Kisinovsky +23 more
2013Medicina7 citations
Semantic Scholar
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
M. B. Bistué Millón, M. A. Delgado, N. Azar, N. Guelbert +6 more
2011JIMD Reports6 citations Open access
Semantic Scholar
Accepted Manuscript Management strategies for CLN 2 disease
Ruth E. Williams, Heather R. Adams, M. Blohm, L. Jessica +27 more
20175 citations
Semantic Scholar
Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina.
M. Larroudé, G. Aguilar, I. Rossi, G. Drelichman +42 more
2016Journal of clinical densitometry3 citations
Semantic Scholar
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results
M. Wasserstein, C. E. Hollak, A. Barbato, Renata C. Gallagher +17 more
2026Journal of Inherited Metabolic Disease2 citations Open access
Semantic Scholar
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
Semantic Scholar
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
F. Pesaola, Guillermo Guelbert, Ana Clara Venier, I. A. Cismondi +6 more
20212 citations Open access
Semantic Scholar
One-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency
M. Wasserstein, Laila Arash-Kaps, A. Barbato, R. Gallagher +17 more
20212 citations
Semantic Scholar
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
N. Guelbert, N. Atanacio, I. Denzler, E. Embiruçu +7 more
20202 citations Open access
Semantic Scholar
WITHDRAWN: Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America.
J. Politei, G. Gordillo-González, N. Guelbert, C. F. Souza +5 more
2018Journal of Pain and Symptom Management2 citations Open access
Semantic Scholar
SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients
A. Sólyom, K. Ehlert, B. Hügle, B. Magnusson +11 more
20152 citations
Semantic Scholar
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs
Rebecca Pleat, N. Al-Sannaa, D. Barbouth, Youssef Benhayoun +9 more
20152 citations
Semantic Scholar
eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
M. Wasserstein, A. Barbato, R. Gallagher, R. Giugliani +17 more
2022Genetics in Medicine1 citations Open access
Semantic Scholar
Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
L. Laróvere, L. Fairbanks, H. Jinnah, N. Guelbert +3 more
2021Journal of Inborn Errors of Metabolism and Screening1 citations Open access
Semantic Scholar
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial
M. Wasserstein, Laila Arash-Kaps, A. Barbato, R. Gallagher +17 more
20211 citations
Semantic Scholar
Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A
C. Hendriksz, R. Parini, M. Al-Sayed, J. Raiman +10 more
20171 citations
Semantic Scholar
Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A
C. Hendriksz, B. Burton, M. AlSayed, R. Giugliani +12 more
20161 citations
Semantic Scholar
Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina
Maria Cristina Robin, Consuelo Durand, Guillermo Guelbert, N. Guelbert +7 more
2026JIMD Reports0 citations Open access
Semantic Scholar

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R. Giugliani×13
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R. Giugliani — researcher profile on SciRah
John J. Mitchell×9
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John J. Mitchell — researcher profile on SciRah
P. Harmatz×8
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P. Harmatz — researcher profile on SciRah
R. Parini×8
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R. Parini — researcher profile on SciRah

×7

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B. Burton — researcher profile on SciRah

C. Hendriksz×7

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C. Hendriksz — researcher profile on SciRah

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A. Martins — researcher profile on SciRah

M. Wasserstein×6

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M. Wasserstein — researcher profile on SciRah

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P. Mabe — researcher profile on SciRah

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M. Tchan — researcher profile on SciRah

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C. Hollak — researcher profile on SciRah

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