About the article: Hurler syndrome. Report of a case

Authors

Keywords:

genetic syndromes, Hurler syndrome, mucopolysaccharidosis

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Author Biography

Noel Taboada Lugo, Centro Provincial de Genética Médica de Villa Clara

Especialista de I y II Grado en Medicina General Integral. Especialista de I y II Grado en Genética Clínica. Máster en Atención Integral al Niño. Doctor en Ciencias Médicas. Profesor Auxiliar de Genética Médica en la Universidad de Ciencias Médicas de Villa Clara. Investigador Auxiliar.

References

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2.Orphanet. Portal de información de enfermedades raras y medicamentos huérfanos [Internet]. París: Orphanet; 2023 [actualizado 30/01/2023; citado 09/04/2023]. Síndrome de Hurler; [aprox. 4 pantallas]. Disponible en: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=93473

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9.Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med [Internet]. 2015 [citado 09/04/2023];17(5):405-424. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/. https://doi.org/10.1038/gim.2015.30

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Published

2023-08-01

How to Cite

1.
Taboada Lugo N. About the article: Hurler syndrome. Report of a case. Acta Méd Centro [Internet]. 2023 Aug. 1 [cited 2025 Jul. 6];17(3). Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1872

Issue

Vol. 17 No. 3 (2023): Julio-Septiembre

Section

Letters to the Editor

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