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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Published in:
2016
By:
- Reid, Emma S.;
- Papandreou, Apostolos;
- Drury, Suzanne;
- Boustred, Christopher;
- Yue, Wyatt W.;
- Wedatilake, Yehani;
- Beesley, Clare;
- Jacques, Thomas S.;
- Anderson, Glenn;
- Abulhoul, Lara;
- Broomfield, Alex;
- Cleary, Maureen;
- Grunewald, Stephanie;
- Varadkar, Sophia M.;
- Lench, Nick;
- Rahman, Shamima;
- Gissen, Paul;
- Clayton, Peter T.;
- Mills, Philippa B.
Publication type:
journal article
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5500, doi. 10.1093/hmg/ddv276
By:
- Oppici, Elisa;
- Fargue, Sonia;
- Reid, Emma S.;
- Mills, Philippa B.;
- Clayton, Peter T.;
- Danpure, Christopher J.;
- Cellini, Barbara
Publication type:
Article