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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Published in:
2013
By:
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Heales, Simon J. R.;
- Brown, Garry K.;
- Hargreaves, Iain P.;
- Taanman, Jan-Willem;
- Gunny, Roxana;
- Abulhoul, Lara;
- Wanders, Ronald J. A.;
- Clayton, Peter T.;
- Leonard, James V.;
- Rahman, Shamima
Publication type:
journal article
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
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 357, doi. 10.1007/s10545-017-0022-x
By:
- Baruteau, Julien;
- Jameson, Elisabeth;
- Morris, Andrew;
- Chakrapani, Anupam;
- Santra, Saikat;
- Vijay, Suresh;
- Kocadag, Huriye;
- Beesley, Clare;
- Grunewald, Stephanie;
- Murphy, Elaine;
- Cleary, Maureen;
- Mundy, Helen;
- Abulhoul, Lara;
- Broomfield, Alexander;
- Lachmann, Robin;
- Rahman, Yusof;
- Robinson, Peter;
- MacPherson, Lesley;
- Foster, Katharine;
- Chong, W.
Publication type:
Article
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 445, doi. 10.1007/s10545-014-9778-4
By:
- Broomfield, Alexander;
- Sweeney, Mary;
- Woodward, Cathy;
- Fratter, Carl;
- Morris, Andrew;
- Leonard, James;
- Abulhoul, Lara;
- Grunewald, Stephanie;
- Clayton, Peter;
- Hanna, Michael;
- Poulton, Joanna;
- Rahman, Shamima
Publication type:
Article
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Published in:
Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 749, doi. 10.1007/s10545-011-9280-1
By:
- Glamuzina, Emma;
- Fettes, Emma;
- Bainbridge, Katie;
- Crook, Victoria;
- Finnegan, Niamh;
- Abulhoul, Lara;
- Vellodi, Ashok
Publication type:
Article

Found: 5

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.