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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.
J Inherit Metab Dis. 2016 Jan;39(1):93-106. doi: 10.1007/s10545-015-9880-2. Epub 2015 Aug 19.
J Inherit Metab Dis. 2016.
PMID: 26287655
Free PMC article.
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.
Ebberink MS, et al.
Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.
Hum Mutat. 2011.
PMID: 21031596
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