Molecular Genetics and Metabolism, 1096-7192
Journal
1 - 7 out of 7Page size: 10
Publications
- 2018
- 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. 159-168Research output: Contribution to journal › Article
- 2011
- Published
- 2010
- 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
- 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
- 2004
- Published
The role of liver transplantation in urea cycle disorders
1 Jan 2004, In : Molecular Genetics and Metabolism. 81, p. S74-78Research output: Contribution to journal › Article
- 2002
- 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
- 2001
- 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