Infantile Sandhoff disease with ventricular septal defect: a case report

BACKGROUND: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal...

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Detalles Bibliográficos
Autores principales: Sahyouni, Jamal Khaled, Odeh, Luma Bassam Mahmoud, Mulla, Fahad, Junaid, Sana, Kar, Subhranshu Sekhar, Al Boot Almarri, Naheel Mohammad Jumah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9404584/
https://www.ncbi.nlm.nih.gov/pubmed/36002893
http://dx.doi.org/10.1186/s13256-022-03550-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9404584/
https://www.ncbi.nlm.nih.gov/pubmed/36002893
http://dx.doi.org/10.1186/s13256-022-03550-0

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