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Korman, SH, Andresen, BS, Zeharia, A, Gutman, A, Boneh, A, Pitt, JJ.
2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation.
Clinical Chemistry
51(3)
:
610 -617
2005
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Kirby, DM, Salemi, R, Sugiana, C, Ohtake, A, Parry, L, Bell, KM, Kirk, EP, Boneh, A, Taylor, RW, Dahl, H-HM, et al.
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
Journal of Clinical Investigation
114(6)
:
837 -845
2004
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Lambert, C, Boneh, A.
The impact of galactosaemia on quality of life—A pilot study.
Journal of Inherited Metabolic Disease
27(5)
:
601 -608
2004
view publication
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Panetta, J, Smith, LJ, Boneh, A.
Effect of high‐dose vitamins, coenzyme Q and high‐fat diet in paediatric patients with mitochondrial diseases.
Journal of Inherited Metabolic Disease
27(4)
:
487 -498
2004
view publication
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Korman, SH, Boneh, A, Ichinohe, A, Kojima, K, Sato, K, Ergaz, Z, Gomori, JM, Gutman, A, Kure, S.
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Annals of Neurology
56(1)
:
139 -143
2004
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