Molecular Genetics and Metabolism, 1096-7192

Journal

1 - 7 out of 7Page size: 10

Publications

  1. 2018
  2. Published

    Oculomotor abnormalities in children with Niemann-Pick Type C

    James Blundell, Steven Frisson & Andrew Olson, Feb 2018, In: Molecular Genetics and Metabolism. 123, 2, p. 159-168

    Research output: Contribution to journal › Article › peer-review

  3. 2011
  4. Published

    Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

    Manju Kurian, Neil Morgan, Rasha Younis & Eamonn Maher, 8 Sep 2011, In: Molecular Genetics and Metabolism.

    Research output: Contribution to journal › Article

  5. 2010
  6. Published

    Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

    Neil Morgan, Eamonn Maher & Manju Kurian, 1 Jun 2010, In: Molecular Genetics and Metabolism. 100, 2, p. 207-212 6 p.

    Research output: Contribution to journal › Article › peer-review

  7. Published

    A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

    Esther Meyer, Manju Kurian & Eamonn Maher, 1 Mar 2010, In: Molecular Genetics and Metabolism. 99, 3, p. 325-328 4 p.

    Research output: Contribution to journal › Article › peer-review

  8. 2004
  9. Published

    The role of liver transplantation in urea cycle disorders

    1 Jan 2004, In: Molecular Genetics and Metabolism. 81, p. S74-78

    Research output: Contribution to journal › Article

  10. 2002
  11. Published

    The impact of phenylketonuria on folate metabolism

    1 Aug 2002, In: Molecular Genetics and Metabolism. 76, 4, p. 305-312 8 p.

    Research output: Contribution to journal › Article

  12. 2001
  13. Published

    Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency

    Wiebke Arlt, Mar 2001, In: Molecular Genetics and Metabolism. 72, 3, p. 254-9 6 p.

    Research output: Contribution to journal › Article › peer-review