Avihu Boneh

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang et al. · Cell · 2008 · 2K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett et al. · Neurology · 2002 · 572 citations

Medicine, Child Health, Pediatrics +8

How practical are recommendations for dietary control in phenylketonuria?

JH Walter, F. White, SK Hall et al. · The Lancet · 2002 · 301 citations

Agriculture, Nutrition, Nutritional Sciences +8

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Denise M. Kirby, Renato Salemi, Canny Sugiana et al. · Journal of Clinical Investigation · 2004 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Bridget Wilcken, Marion Haas, Pamela Joy et al. · The Lancet · 2007 · 184 citations

Medicine, Child Health, Pediatrics +14