Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

BACKGROUND: Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile...

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Bibliographic Details
Main Authors: Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, Rostami, Parastoo
Format: Text
Language:English
Published: BioMed Central 2018
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Research
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6091055/
https://pubmed.ncbi.nlm.nih.gov/30075786
http://dx.doi.org/10.1186/s13023-018-0876-5
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6091055/
https://pubmed.ncbi.nlm.nih.gov/30075786
http://dx.doi.org/10.1186/s13023-018-0876-5

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