Late-infantile GM1 gangliosidosis: A case report

RATIONALE: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically...

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Detalles Bibliográficos
Autores principales: Noh, Eu Seon, Park, Hye Mi, Kim, Min Sun, Park, Hyung-Doo, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
5100
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735744/
https://www.ncbi.nlm.nih.gov/pubmed/35029890
http://dx.doi.org/10.1097/MD.0000000000028435

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735744/
https://www.ncbi.nlm.nih.gov/pubmed/35029890
http://dx.doi.org/10.1097/MD.0000000000028435

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