default author photo

Peter Woolfson

Government of the United Kingdom - Salford Royal NHS Foundation Trust

SCHOLARLY PAPERS

2

DOWNLOADS

86

TOTAL CITATIONS

0

Scholarly Papers (2)

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
Downloads 49 (1,074,648)

Abstract:

Loading...

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

2.

MPS VII – Extending the Classical Phenotype

Number of pages: 16 Posted: 27 May 2022
Government of the United Kingdom - Salford Royal NHS Foundation Trust, Government of the United Kingdom - Salford Royal NHS Foundation Trust, Government of the United Kingdom - Salford Royal NHS Foundation Trust, North West Congenital Heart Disease Partnership, Government of the United Kingdom - Salford Royal NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, Government of the United Kingdom - Salford Royal NHS Foundation Trust, Royal Manchester Children's Hospital, University of Pretoria, Government of the United Kingdom - Salford Royal NHS Foundation Trust and Government of the United Kingdom - Salford Royal NHS Foundation Trust
Downloads 37 (1,236,159)

Abstract:

Loading...

Mucopolysaccharidosis VII, Sly syndrome, case report, GUSB