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1 - 10 of 14 results found for MVK. Did you mean: mk

  1. MVK mutations in unusual populations

    http://iris.ucl.ac.uk/iris/publication/193960/3

  2. Molecular Genetic Testing | Centre for Amyloidosis and Acute Phase...

    MEFV, pyrin innate immunity regulator. MEFV. 16p13.3. mevalonate kinase. MVK. 12q24.11.

    https://www.ucl.ac.uk/amyloidosis/national-amyloidosis-centre/molecular-genetic-testing

  3. Autoinflammatory Syndromes | Centre for Amyloidosis and Acute Phase...

    Mevalonate kinase deficiency (MKD). Mevalonate kinase deficiency (MKD), also known as Hyperimmunoglobulin D and periodic fever syndrome (HIDS), is an autosomal recessive disease caused by mutations in the mevalonate kinase (MVK)

    https://www.ucl.ac.uk/amyloidosis/national-amyloidosis-centre/autoinflammatory-syndromes

  4. TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from...

    http://iris.ucl.ac.uk/iris/publication/239404/3

  5. Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

    Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic

    http://iris.ucl.ac.uk/iris/publication/1586794/1

  6. Nanomaterials

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    https://www.london-nano.com/taxonomy/term/310/feed

  7. How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?

    The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and apoptosis pathways. The spectrum of SAIDs continues to grow with over 30 different disorders

    http://iris.ucl.ac.uk/iris/publication/1622345/1

  8. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic...

    BACKGROUND: Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly

    http://iris.ucl.ac.uk/iris/publication/1773438/1

  9. Biomaterials

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    https://www.london-nano.com/taxonomy/term/191/feed

  10. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with...

    OBJECTIVE: To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS: A total of 228 consecutive patients with a clinical

    http://iris.ucl.ac.uk/iris/publication/102313/1

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