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Case 13 - Zellweger Syndrome

from Part V - Cases

Published online by Cambridge University Press:  08 September 2022

Cecil D. Hahn
Affiliation:
The Hospital for Sick Children, University of Toronto
Courtney J. Wusthoff
Affiliation:
Lucile Packard Children’s Hospital, Stanford University
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Publisher: Cambridge University Press
Print publication year: 2022

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References

Klouwer, FC, Berendse, K, Ferdinandusse, S, et al. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151.Google Scholar
Braverman, NE, Raymond, GV, Rizzo, WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313–21.CrossRefGoogle ScholarPubMed
Lee, PR, Raymond, GV. Child neurology: Zellweger syndrome. Neurology. 2013;80(20):e207–10.Google Scholar
Govaerts, L, Colon, E, Rotteveel, J, Monnens, L. A neurophysiological study of children with the cerebro-hepato-renal syndrome of Zellweger. Neuropediatrics. 1985;16(4):185–90.CrossRefGoogle ScholarPubMed
Panjan, DP, Meglic, NP, Neubauer, D. A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings. Clin Electroencephalogr. 2001;32(1):2831.CrossRefGoogle ScholarPubMed

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