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Evans, M, Andresen, BS, Nation, J, Boneh, A.
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Molecular Genetics and Metabolism
118(4)
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282 -287
2016
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Holzerová, E, Olsen, RKJ, Giancaspero, TA, Mosegaard, S, Boczonadi, V, Matakovic, L, Ghezzi, D, Acquaviva, C, Boneh, A, Mayr, JA, et al.
Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency.
Biochimica et Biophysica Acta (BBA) - Bioenergetics
1857:
e95
2016
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Olsen, RKJ, Koňaříková, E, Giancaspero, TA, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, TB, et al.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
American Journal of Human Genetics
98(6)
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1130 -1145
2016
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Brown, A, Crowe, L, Boneh, A, Anderson, V.
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
31:
29 -36
2016
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Peters, H, Ferdinandusse, S, Ruiter, JP, Wanders, RJA, Boneh, A, Pitt, J.
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Molecular Genetics and Metabolism
115(4)
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168 -173
2015
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