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Fischer, S, Huemer, M, Baumgartner, M, Deodato, F, Ballhausen, D, Boneh, A, Burlina, AB, Cerone, R, Garcia, P, Gökçay, G, et al.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Journal of Inherited Metabolic Disease
37(5)
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831 -840
2014
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Barends, M, Pitt, J, Morrissy, S, Tzanakos, N, Boneh, A, Staff, OBOTNSL.
Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.
Molecular Genetics and Metabolism
113(1-2)
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46 -52
2014
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Boneh, A.
Dietary protein in urea cycle defects: How much? Which? How?.
Molecular Genetics and Metabolism
113(1-2)
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109 -112
2014
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Humphrey, M, Truby, H, Boneh, A.
New ways of defining protein and energy relationships in inborn errors of metabolism.
Molecular Genetics and Metabolism
112(4)
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247 -258
2014
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Costa, AL, Le Bachelier, C, Mathieu, L, Rotig, A, Boneh, A, De Lonlay, P, Tarnopolsky, MA, Thorburn, DR, Bastin, J, Djouadi, F.
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Human Molecular Genetics
23(8)
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2106 -2119
2014
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