Browsing by Author Boneh, A.

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Issue DateTitleAuthor(s)Citation
20023-hydroxyglutarate excretion is increased in keototic patients: implications for glutaryl-CoA dehydrogenase deficiency testingWilcken, Bridget; Boneh, A.; Carpenter, K.; Pitt, J.; Children's Hospital Westmead: Paediatrics & Child Health3-hydroxyglutarate excretion is increased in keototic patients: implications for glutaryl-CoA dehydrogenase deficiency testing, Journal of inherited metabolic disease, vol.25,(2),2002,pp 83-88
2013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesChristodoulou, John; Boneh, A.; Bruno, Damien; DeGennaro, Christine; et al, Various; Friemel, Martin; Kirk, Edwin; Lim, Sze Chern; Marum, Justine; Riley, Lisa G.; Springer, Michael; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes, Human Molecular Genetics, vol.22, 22, 2013,pp 4460-4473