O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease
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DOI: 10.1093/rheumatology/keaa110
Abstract: Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline phosphatase (TNSALP) isoenzyme (ALPL), leading to deficient activity of TNSALP. It can be inherited as an autosomal dominant or… read more here.
Keywords: hypophosphatasia; diagnosis; specialist centre; rheumatology ... See more keywords
Receiving treatment at a specialist centre confers an overall survival benefit for patients with mantle cell lymphoma
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DOI: 10.1111/bjh.15696
Abstract: Recent clinical advances in mantle cell lymphoma (MCL) have seen standard-of-care treatment algorithms transformed. Frontline rituximab combination therapy, high dose cytarabine-based induction in younger patients and, more recently, Bruton Tyrosine Kinase (BTK) inhibitors in the… read more here.
Keywords: specialist centre; treatment; mantle cell; treatment specialist ... See more keywords
Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre
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DOI: 10.1111/imj.15473
Abstract: This study aims to evaluate the impact of the COVID‐19 pandemic on the lysosomal disorders unit (LSDU) at Royal Free London NHS Foundation Trust (RFL), a highly specialised national service for diagnosis and management of… read more here.
Keywords: lysosomal storage; specialist centre; impact; storage disorders ... See more keywords