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1 - 10 of 20 results found for PMM2.

  1. Mutations in PMM2 that cause congenital disorders of glycosylation, type 1a (CDG-1a)

    http://iris.ucl.ac.uk/iris/publication/13097/1

  2. Retinal dysfunction at the on-bipolar synapse in PMM2-CDG.

    http://iris.ucl.ac.uk/iris/publication/1423419/1

  3. POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN...

    http://iris.ucl.ac.uk/iris/publication/1667707/3

  4. A NOVEL SYNDROME OF HYPERINSULINAEMIC HYPOGLYCEMIA AND POLYCYSTIC KIDNEYS DUE TO A...

    http://iris.ucl.ac.uk/iris/publication/1502487/3

  5. ERGs in hypotonic infants who fail to thrive facilitate diagnosis of PMM2-CDG

    http://iris.ucl.ac.uk/iris/publication/1423418/1

  6. A PMM2 promoter mutation causing congenital polycystic kidney and hyperinsulinemic...

    http://iris.ucl.ac.uk/iris/publication/1713984/3

  7. EVIDENCE OF RETINAL DYSFUNCTION AT THE ON-BIPOLAR SYNAPSE IN PMM2-CDG

    http://iris.ucl.ac.uk/iris/publication/1437911/3

  8. Nifedipine Therapy in Hyperinsulinaemic Hypoglycaemia Due to Mutations in the PMM2 Gene...

    http://iris.ucl.ac.uk/iris/publication/1594016/3

  9. Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

    The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor

    http://iris.ucl.ac.uk/iris/publication/853426/2

  10. Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

    The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor

    http://iris.ucl.ac.uk/iris/publication/919699/7

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