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Al-Sannaa, N. A., Bay, L., Barbouth, D. S., Benhayoun, Y., Goizet, C., Guelbert, N., Jones, S. A., Kyosen, S. O., Martins, A. M., Phornphutkul, C., Reig, C., Pleat, R., Fallet, S., & Ivanovska Holder, I. (2015). Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: A retrospective case series analysis of nine sibships. Orphanet Journal of Rare Diseases, 10(1). https://doi.org/10.1186/S13023-015-0344-4

Angaroni, C., Giner-Ayala, A., Hill, L. P., Guelbert, N., Paschini-Capra, A. E., & Dodelson de Kremer, R. (2010). Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: An outlook. Journal of Inherited Metabolic Disease, 33(SUPPL. 2). https://doi.org/10.1007/s10545-010-9139-x

Asteggiano, C. G., Papazoglu, M., Bistué Millón, M. B., Peralta, M. F., Azar, N. B., Spécola, N. S., Guelbert, N., Suldrup, N. S., Pereyra, M., & Dodelson de Kremer, R. (2018). Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. Pediatric Research 2018 84:6, 84(6), 837–841. https://doi.org/10.1038/s41390-018-0206-6

Augustine, E. F., Adams, H. R., de los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C., & King, S. (2021). Management of CLN1 Disease: International Clinical Consensus. Pediatric Neurology, 120, 38–51. https://doi.org/10.1016/J.PEDIATRNEUROL.2021.04.002

Cismondi, I. A., Cannelli, N., Aiello, C., Santorelli, F. M., Kohan, R., Oller-Ramirez, A. M., & Noher de Halac, I. (2008). Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant. Human Genetics, 123(5), 554.

Cismondi, I. A., Kohan, R., Adams, H. R., Bond, M., Brown, R., Cooper, J. D., de Hidalgo, P. K., Holthaus, S.-M. K., Mole, S. E., Mugnaini, J., Oller-Ramirez, A. M., Pesaola, F., Rautenberg, G., Platt, F. M., & Noher de Halac, I. (2015). Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochimica et Biophysica Acta, 1852(10 Pt B), 2316–2323. https://doi.org/10.1016/j.bbadis.2015.06.018

Cismondi, I. A., Kohan, R., Ghio, A., Oller-Ramirez, A. M., & Noher de Halac, I. (2008). Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile. Human Genetics, 124(3), 323–324. Cotman, S. L., Mole, S. E., & Kohan, R. (2015). Future perspectives: Moving towards NCL treatments. Biochimica et Biophysica Acta. https://doi.org/10.1016/j.bbadis.2015.04.001

de Kremer, R. D., Latini, A., Suormala, T., Baumgartner, E. R., Larovere, L., Civallero, G., Guelbert, N., Paschini-Capra, A., Depetris-Boldinil, C., & Quiroga Mayor, C. (2002). Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency. Metabolic Brain Disease 2002 17:1, 17(1), 13–18. https://doi.org/10.1023/A:1014096112916

Dodelson de Kremer, R., Paschini-Capra, A., Bacman, S., Argaran, C., Civallero, G., Kelley, R. I., Guelbert, N., Latini, A., Noher De Halac, I., Giner-Ayala, A., Johnston, J., Proujansky, R., Gonzalez, I., Depetris-Boldini, C., Oller-Ramirez, A. M., Angaroni, C., Theaux, R. A., Hliba, E., & Juaneda, E. (2001). Barth’s Syndrome-Like Disorder: A New Phenotype With A Maternally Inherited A3243G Substitution of Mitochondrial DNA (MELAS Mutation). American Journal of Medical Genetics, 99, 83–93. https://doi.org/10.1002/1096-8628

Drelichman, G., Fernández Escobar, N., Basack, N., Aversa, L., Larroude, M. S., Aguilar, G., Szlago, M., Schenone, A., Fynn, A., Cuello, M. F., Aznar, M., Fernández, R., Ruiz, A., Reichel, P., Guelbert, N., Robledo, H., Watman, N., Bolesina, M., Elena, G., … Saavedra, J. L. (2016). Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients. American Journal of Hematology, 91(10), E448–E453. https://doi.org/10.1002/AJH.24486

Dubrovsky, A., Fulgenzi, E., Amartino, H., Carlés, D., Corderi, J., de Vito, E., Fainboim, A., Ferradás, N., Guelbert, N., Lubieniecki, F., Mazia, C., Mesa, L., Monges, S., Pesquero, J., Reisin, R., Rugiero, M., Schenone, A., Szlago, M., Taratuto, A. L., & Zgaga, M. (2014). Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe. Neurología Argentina, 6(2), 96–113. https://doi.org/10.1016/J.NEUARG.2014.01.006

Dworski, S., Lu, P., Khan, A., Maranda, B., Mitchell, J. J., Parini, R., di Rocco, M., Hugle, B., Yoshimitsu, M., Magnusson, B., Makay, B., Arslan, N., Guelbert, N., Ehlert, K., Jarisch, A., Gardner-Medwin, J., Dagher, R., Terreri, M. T., Lorenco, C. M., … Medin, J. A. (2017). Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1863(2), 386–394. https://doi.org/10.1016/J.BBADIS.2016.11.031

Elsea, S. H., Solyom, A., Martin, K., Harmatz, P., Mitchell, J., Lampe, C., Grant, C., Selim, L., Mungan, N. O., Guelbert, N., Magnusson, B., Sundberg, E., Puri, R., Kapoor, S., Arslan, N., DiRocco, M., Zaki, M., Ozen, S., Mahmoud, I. G., … Ferreira, C. R. (2020). ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Human Mutation, 41(9), 1469–1487. https://doi.org/10.1002/HUMU.24056

Gavelli, M. E., Guelbert, N., Mazzieri, M. R., & Fontana, D. (n.d.). Enfermedades mitocondriales en Córdoba (Argentina). Estudio farmacoepidemiológico (Mitochondrial diseases in Córdoba (Argentina). Pharmacoepidemiological study.). Bitácora Digital, 1(1). Retrieved December 5, 2022, from https://revistas.unc.edu.ar/index.php/Bitacora/article/view/4621

Giugliani, R., Luz, M., Villarreal, S., Arellano Valdez, C. A., Hawilou, A. M., Guelbert, N., Norela, L., Garzón, C., Martins, A. M., Acosta, A., Cabello, J. F., Lemes, A., Schmitz, M. L., Santos, F., & Amartino, H. (2014). Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. SciELO Brasil, 37, 315–329. https://www.scielo.br/j/gmb/a/JpQKP9xTCBFmWz7Ss4sP5kB/abstract/?lang=en

Guelbert, G., & Guelbert, N. (2022). Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina. Journal of Inborn Errors of Metabolism & Screening , 10.

Guelbert G, Venier AC, Cismondi IA,Becerra A, Vazquez JC, Fernández EA,De Paul AL, Guelbert N, Noher I and Pesaola F (2022) Neuronal ceroidlipofuscinosis in the SouthAmerican-Caribbean region: Anepidemiological overview.Front. Neurol. 13:920421.doi: 10.3389/fneur.2022.920421

Guelbert, N., Atanacio, N., Denzler, I., Leao, E., Mancilla, N., Naranjo, R., Pessoa, A., Specola, N., Tavera, L., Troncoso, M., & Vergara, D. (2021). Position of experts regarding follow-up of patients with Neuronal Ceroid Lipofuscinosis type 2 in Latin America. Manuscript under revision.

Guelbert, N., Politei, J., Szlago, M., Robledo, H., Lescano, S., Giner-Ayala, A., & Angaroni, C. (2015). Evaluación de las neuroimágenes y descripción del compromiso multisistémico en una familia con enfermedad de Fabry. Neurología Argentina, 7(2), 100–104. https://doi.org/10.1016/J.NEUARG.2015.01.002

Harmatz, P., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J., Martins, A., Jones, S., Guelbert, N., Vellodi, A., Hollak, C., Slasor, P., & Decker, C. (2013). The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Molecular Genetics and Metabolism, 109(1), 54–61. https://doi.org/10.1016/J.YMGME.2013.01.021

Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P., & Decker, C. (2015). Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. Molecular Genetics and Metabolism, 114(2), 186–194. https://doi.org/10.1016/J.YMGME.2014.10.015

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F. J., Hughes, D. A., Matousek, R., Hawley, S. M., Decker, C., & Harmatz, P. R. (2018). 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. Molecular Genetics and Metabolism, 123(2), 127–134. https://doi.org/10.1016/J.YMGME.2017.11.015

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Solano Villarreal, M. L., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Berger, K. I., Slasor, P., Matousek, R., Jurecki, E., Shaywitz, A. J., & Harmatz, P. R. (2016). Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome. Molecular Genetics and Metabolism, 119(1–2), 131–143. https://doi.org/10.1016/J.YMGME.2016.05.018

Kohan, R., Cannelli, N., Aiello, C., Santorelli, F. M., Cismondi, I. A., Milà-Recasens, M., Oller-Ramirez, A. M., & Noher de Halac, I. (2008). Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. Human Genetics, 123(5), 552.

Kohan, R., Carabelos, M. N., Xin, W., Sims, K. B., Guelbert, N., Cismondi, I. A., Pons, P., Alonso, G. I., Troncoso, M., Witting, S., Pearce, D. A., Dodelson de Kremer, R., Oller-Ramirez, A. M., & Noher de Halac, I. (2013). Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene, 516(1), 114–121. https://doi.org/10.1016/j.gene.2012.12.058

Kohan, R., Cismondi, I. A., Dodelson de Kremer, R., Muller, V. J., Guelbert, N., Tapia Anzolini, V., Fietz, M. J., Oller-Ramirez, A. M., & Noher de Halac, I. (2009). An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. Clinical Genetics, 76(4), 372–382. https://doi.org/10.1111/j.1399-0004.2009.01214.x

Kohan, R., Cismondi, I. A., & Noher de Halac, I. (2014). NCL 2014. Abstracts of the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten disease) & 2nd International Patients Organization Meeting. Medicina, 74, Suppl II: 11-33.

Kohan, R., Cismondi, I. A., Oller-Ramirez, A. M., Guelbert, N., Tapia Anzolini, V., Alonso, G. I., Mole, S. E., Dodelson de Kremer, R., & Noher de Halac, I. (2011). Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Current Pharmaceutical Biotechnology, 12(6), 867–883. https://doi.org/10.2174/138920111795542633

Kohan, R., Muller, V. J., Fietz, M. J., Cismondi, I. A., Oller-Ramirez, A. M., & Noher de Halac, I. (2008). Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile. Human Genetics, 123(5), 553. http://www.ncbi.nlm.nih.gov/pubmed/20960655

Kohan, R., Noher de Halac, I., Tapia Anzolini, V., Cismondi, I. A., Oller-Ramirez, A. M., Paschini Capra, A., & Dodelson de Kremer, R. (2005). Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. Clinical Biochemistry, 38(5), 492–494. https://doi.org/10.1016/j.clinbiochem.2004.12.007

Kohan, R., Pesaola, F., Guelbert, N., Pons, P., Oller-Ramirez, A. M., Rautenberg, G., Becerra, A., Sims, K. B., Xin, W., Cismondi, I. A., & Noher de Halac, I. (2015). The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. Biochimica et Biophysica Acta, 1852(10), 2300–2311. https://doi.org/10.1016/j.bbadis.2015.05.003

Laróvere, L., Fairbanks, L. D., Jinnah, H. A., Guelbert, N., Escuredo, E., Becerra, A., & Dodelson de Kremer, R. (2021). 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, 9. https://doi.org/10.1590/2326-4594-JIEMS-2020-0027

Laróvere, L., Romero, N., Fairbanks, L. D., Conde, C. B., Guelbert, N., Rosa, A. L., & Dodelson de Kremer, R. (2004). A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant. Molecular Genetics and Metabolism, 81(4), 352–354. https://doi.org/10.1016/j.ymgme.2004.01.013

Lourenço, C. M., Pessoa, A., Mendes, C. C., Rivera-Nieto, C., Vergara, D., Troncoso, M., Gardner, E., Mallorens, F., Tavera, L., Lizcano, L. A., Atanacio, N., Guelbert, N., Specola, N., Mancilla, N., de Souza, C. F. M., & Mole, S. E. (2020). Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. Journal of Paediatrics and Child Health. https://doi.org/10.1111/jpc.15250

Mole, S. E., Schulz, A., Badoe, E., Berkovic, S. F., de Los Reyes, E. C., Dulz, S., Gissen, P., Guelbert, N., Lourenco, C. M., Mason, H. L., Mink, J. W., Murphy, N., Nickel, M., Olaya, J. E., Scarpa, M., Scheffer, I. E., Simonati, A., Specchio, N., von Löbbecke, I., … Williams, R. E. (2021). Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/S13023-021-01813-5

Neumann, P., Antongiovanni, N., Fainboim, A., Kisinovsky, I., Amartino, H., Cabrera, G., Carmona, S., Ceci, R., Cicerán, A., Choua, M., Doxastakis, G., de Maio, S., Ebner, R., Escobar, A. M., Ferrari, G., Forrester, M., Guelbert, N., Luna, P., Marchesoni, C., … Trípoli, J. (2013). Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. Medicina (Argentina), 73(5), 482–494. http://www.ncbi.nlm.nih.gov/pubmed/24152410

Noher de Halac, I., Dodelson de Kremer, R., Kohan, R., & Cismondi, I. A. (2005). Neuronal Ceroid Lipofuscinosis (Batten Disease) in Latin America- an update. (I. Noher de Halac & R. Dodelson de Kremer, Eds.; 1st ed.). Secretaría de Extensión, Universidad Nacional de Córdoba,.

Papazoglu, G. M., Silvera-Ruiz, S. M., Salinas, R., Pereira, Mi. I., Cubilla, M. A., Pesaola, F., Ghione, S., Ramadán, N., Martinez-Duncker, I., & Asteggiano, C. G. (2021). Platelet Membrane Glycoprofiling in a PMM2-CDG Patient. Journal of Inborn Errors of Metabolism & Screening, 9. https://doi.org/https://doi.org/10.1590/2326-4594-JIEMS–2020–0030

Pesaola, F., Guelbert, G., Venier, A. C., Cismondi, I. A., Becerra, A., Vazquez, J. C. G., Fernandez, E., de Paul, A. L., Guelbert, N., & Noher de Halac, I. (2021). “Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era. Journal of Inborn Errors of Metabolism and Screening, 9, e20210009. https://doi.org/10.1590/2326-4594-jiems-2021-0009

Pesaola, F., Kohan, R., Cismondi, I. A., Guelbert, N., Pons, P., Oller-Ramirez, A. M., & Noher de Halac, I. (2019). Congenital CLN8 disease of Neuronal Ceroid Lipofuscinosis: a novel phenotype. Revista de Neurologia, 68(4), 155–159. https://doi.org/10.33588/rn.6804.2018217

Pesaola, F., Quassollo, G., Venier, A. C., de Paul, A. L., Noher de Halac, I., & Bisbal, M. (2021). The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology. Biology of the Cell, 113(10), 419–437. https://doi.org/10.1111/boc.202000016

Politei, J. M., Gordillo-González, G., Guelbert, N. B., de Souza, C. F. M., Lourenço, C. M., Solano, M. L., Junqueira, M. M., Magalhães, T. S. P. C., & Martins, A. M. (2018). Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America. Journal of Pain and Symptom Management, 56(1), 146–152. https://doi.org/10.1016/J.JPAINSYMMAN.2018.03.023

Politeia, J., Schenone, A. B., Guelbert, N., Fainboim, A., & Szlago, M. (2015). Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático. Arch Argent Pediatr, 113(4), 359–364.

Silvera-Ruiz, S. M., Arranz, J. A., Häberle, J., Angaroni, C., Bezard, M., Guelbert, N., Becerra, A., Peralta, F., Dodelson de Kremer, R., & Laróvere, L. (2019). Urea cycle disorders in Argentine patients: Clinical presentation, biochemical and genetic findings. Orphanet Journal of Rare Diseases, 14(1), 1–8. https://doi.org/10.1186/S13023-019-1177-3/TABLES/2

Tomatsu, S., Dieter, T., Schwartz, I. v., Sarmient, P., Giugliani, R., Barrera, L. A., Guelbert, N., Kremer, R., Repetto, G. M., Gutierrez, M. A., Nishioka, T., Peña Serrato, O., Montaño, A. M., Yamaguchi, S., & Noguchi, A. (2004). Identification of a common mutation in mucopolysaccharidosis IVA: Correlation among genotype, phenotype, and keratan sulfate. Journal of Human Genetics, 49(9), 490–494. https://doi.org/10.1007/S10038-004-0178-8

Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., … Kumar, M. (2022). A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. Genetics in Medicine, 24(7), 1425–1436. https://doi.org/10.1016/J.GIM.2022.03.021

Wibbeler, E., Wang, R., Reyes, E. de los, Specchio, N., Gissen, P., Guelbert, N., Nickel, M., Schwering, C., Lehwald, L., Trivisano, M., Lee, L., Amato, G., Cohen-Pfeffer, J., Shediac, R., Leal-Pardinas, F., & Schulz, A. (2020). Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. Journal of Child Neurology. https://doi.org/10.1177/0883073820977997

Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M. A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., … Schulz, A. (2017). Management Strategies for CLN2 Disease. Pediatric Neurology, 69, 102–112. https://doi.org/10.1016/J.PEDIATRNEUROL.2017.01.034