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Author/Creator Heales, Simon J. R.

4. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. Issue 2 (12th August 2014)

Authors:
Bowron, Ann; Honeychurch, Julie; Williams, Maggie; Tsai‐Goodman, Beverley; Clayton, Nicol; Jones, Lucy; Shortland, Graham J.; Qureshi, Shakeel A.; Heales, Simon J. R.; Steward, Colin G.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 2(2015)
Page Start:
279
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard. (10th April 2013)

Authors:
Duberley, Kate E. C.; Hargreaves, Iain P.; Chaiwatanasirikul, Korn‐Anong; Heales, Simon J. R.; Land, John M.; Rahman, Shamima; Mills, Kevin; Eaton, Simon
Journal:
Rapid communications in mass spectrometry
Issue:
Volume 27:Number 9(2013)
Page Start:
924
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. Issue 1 (15th September 2015)

Authors:
Bowron, Ann; Honeychurch, Julie; Williams, Maggie; Tsai‐Goodman, Beverley; Clayton, Nicol; Jones, Lucy; Shortland, Graham J.; Qureshi, Shakeel A.; Heales, Simon J. R.; Steward, Colin G.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
151
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Issue 2 (1st July 2019)

Authors:
Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba‐Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo‐Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Pascha...
Other Names:
Kriouile Yamna investigator.; Khorassani Mohamed El investigator.; Aguennouz Mhammed investigator.; Groppa Stanislav investigator.; Marinova Karashova Blagovesta investigator.; Van Maldergem Lionel investigator.; Nachbauer Wolfgang investigator.; Boesch Sylvia investigator.; Arning Larissa invest...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
225
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗