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John Bassett

affiliation not provided to SSRN

SCHOLARLY PAPERS

1

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49

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0

Scholarly Papers (1)

1.

Long-Term Neuromuscular, Cardiac and Liver Outcomes in an Adult Man Affected with Chanarin-Dorfman Syndrome

Number of pages: 19 Posted: 08 Aug 2025
affiliation not provided to SSRN, affiliation not provided to SSRN, University College London - University College London Hospitals NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, Government of the United Kingdom - Salford Royal NHS Foundation Trust, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Government of the United Kingdom - Salford Royal NHS Foundation Trust, affiliation not provided to SSRN, affiliation not provided to SSRN, The University of Manchester - Manchester University NHS Foundation Trust, affiliation not provided to SSRN, Medical University of Innsbruck and affiliation not provided to SSRN
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Abstract:

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Chanarin-Dorfman syndrome, CGI-58, liver disease, Ichthyosis, neuromuscular disease, neutral lipid storage disease