Familial Global Developmental Delay Secondary to β-Mannosidosis

β-Mannosidosis is a rare lysosomal storage disorder that is caused by a deficiency of β-mannosidase activity, which is due to mutations of the MANBA gene. Two Indian siblings born out of a third-degree consanguineous marriage presented during late infancy with global developmental delay. On examinat...

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Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju K., Nagarajan, Balamurugan, Suryanarayana, Srividya G., Srinivasan, Varunvenkat M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706588/
https://www.ncbi.nlm.nih.gov/pubmed/35018184
http://dx.doi.org/10.4103/jpn.JPN_65_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706588/
https://www.ncbi.nlm.nih.gov/pubmed/35018184
http://dx.doi.org/10.4103/jpn.JPN_65_20

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