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Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.
J Inherit Metab Dis. 2019.
PMID: 30761551
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ.
Jager EA, et al. Among authors: gozalbo er.
J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16.
J Inherit Metab Dis. 2019.
PMID: 31012112
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Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G.
Bleeker JC, et al. Among authors: gozalbo er.
J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037.
J Inherit Metab Dis. 2019.
PMID: 30740737
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