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Humphrey, M, Nation, J, Francis, I, Boneh, A.
Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients.
Molecular Genetics and Metabolism
104(1-2)
:
89 -92
2011
view publication
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Kölker, S, Christensen, E, Leonard, JV, Greenberg, CR, Boneh, A, Burlina, AB, Burlina, AP, Dixon, M, Duran, M, Cazorla, AG, et al.
Diagnosis and management of glutaric aciduria type I – revised recommendations.
Journal of Inherited Metabolic Disease
34(3)
:
677 -694
2011
view publication
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Goel, H, Lusher, A, Boneh, A.
Pediatric Mortality Due to Inborn Errors of Metabolism in Victoria, Australia: A Population-Based Study.
JAMA
304(10)
:
1070 -1072
2010
view publication
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Warne, GL, Armstrong, KL, Faunce, TA, Wilcken, BM, Boneh, A, Geelhoed, E, Craig, ME.
The case for newborn screening for congenital adrenal hyperplasia in Australia.
The Medical Journal of Australia
192(2)
:
107 -107
2010
view publication
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Boneh, A.
Challenges in translating metabolomic screening into clinical practice.
Pathology
42:
s32
2010
view publication