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Braverman, N, Chen, L, Lin, P, Obie, C, Steel, G, Douglas, P, Chakraborty, PK, Clarke, JTR, Boneh, A, Moser, A, et al.
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Human Mutation
20(4)
:
284 -297
2002
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Kanumakala, S, Boneh, A, Zacharin, M.
Pamidronate treatment improves bone mineral density in children with Menkes disease.
Journal of Inherited Metabolic Disease
25(5)
:
391 -398
2002
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Morrone, A, Malvagia, S, Donati, MA, Funghini, S, Ciani, F, Pela, I, Boneh, A, Peters, H, Pasquini, E, Zammarchi, E.
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
American Journal of Medical Genetics
111(1)
:
10 -18
2002
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Boneh, A, Greaves, RF, Garra, G, Pitt, JJ.
Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.
American Journal of Obstetrics and Gynecology
187(1)
:
225 -226
2002
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Walter, J, White, F, Hall, S, MacDonald, A, Rylance, G, Boneh, A, Francis, D, Shortland, G, Schmidt, M, Vail, A.
How practical are recommendations for dietary control in phenylketonuria?.
The Lancet
360(9326)
:
55 -57
2002
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