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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: daly a. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
A new, low-volume protein substitute for teenagers and adults with phenylketonuria.
MacDonald A, Lilburn M, Cochrane B, Davies P, Daly A, Asplin D, Hall SK, Cousins A, Chakrapani A, Robinson P, Lee P. MacDonald A, et al. Among authors: daly a. J Inherit Metab Dis. 2004;27(2):127-35. doi: 10.1023/B:BOLI.0000028784.11080.9b. J Inherit Metab Dis. 2004. PMID: 15159643 Clinical Trial.
Protein substitutes for PKU: what's new?
Macdonald A, Daly A, Davies P, Asplin D, Hall SK, Rylance G, Chakrapani A. Macdonald A, et al. Among authors: daly a. J Inherit Metab Dis. 2004;27(3):363-71. doi: 10.1023/B:BOLI.0000031099.79046.65. J Inherit Metab Dis. 2004. PMID: 15190194 Review.
Protein substitute dosage in PKU: how much do young patients need?
MacDonald A, Chakrapani A, Hendriksz C, Daly A, Davies P, Asplin D, Hall K, Booth IW. MacDonald A, et al. Among authors: daly a. Arch Dis Child. 2006 Jul;91(7):588-93. doi: 10.1136/adc.2005.084285. Epub 2006 Mar 17. Arch Dis Child. 2006. PMID: 16547085 Free PMC article. Clinical Trial.
Breast feeding in IMD.
MacDonald A, Depondt E, Evans S, Daly A, Hendriksz C, Chakrapani A A, Saudubray JM. MacDonald A, et al. Among authors: daly a. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):299-303. doi: 10.1007/s10545-006-0332-x. J Inherit Metab Dis. 2006. PMID: 16763891
1,127 results