Clinical, neuroradiological, and molecular phenotyping of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations

2021 ◽  
Vol 132 ◽  
pp. iv
Author(s):  
Anthony Cheung ◽  
Catherine Argyriou ◽  
Christine Yergeau ◽  
Yasmin D’Souza ◽  
Emilie Riou ◽  
...  
Keyword(s):  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder ◽  
Molecular Phenotyping

scholarly journals Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

2020 ◽  
Vol 25 ◽  
pp. 100694
Author(s):  
Mousumi Bose ◽  
David D. Cuthbertson ◽  
Marsha A. Fraser ◽  
Jean-Baptiste Roullet ◽  
K. Michael Gibson ◽  
...  
Keyword(s):  
Family Caregivers ◽  
Cross Sectional Study ◽  
Spectrum Disorder ◽  
Sectional Study ◽  
Cross Sectional ◽  
Symptom Prevalence ◽  
Zellweger Spectrum Disorder

scholarly journals A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

2018 ◽  
Vol 5 (1) ◽  
pp. a003483 ◽  
Author(s):  
Akemi J. Tanaka ◽  
Kanji Okumoto ◽  
Shigehiko Tamura ◽  
Yuichi Abe ◽  
Yoel Hirsch ◽  
...  
Keyword(s):  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder

Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?

2011 ◽  
Vol 42 (01) ◽  
pp. 32-34 ◽  
Author(s):  
K. S. Kulkarni ◽  
K. W. Baranano ◽  
D. D. M. Lin ◽  
G. V. Raymond
Keyword(s):  
Contrast Enhancement ◽  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder

scholarly journals Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

2020 ◽  
Vol 23 ◽  
pp. 100590
Author(s):  
Eva M.M. Hoytema van Konijnenburg ◽  
Ilse K. Luirink ◽  
Sebastian E.E. Schagen ◽  
Marc Engelen ◽  
Kevin Berendse ◽  
...  
Keyword(s):  
Spectrum Disorder ◽  
Deletion Syndrome ◽  
Zellweger Spectrum Disorder

scholarly journals Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

2019 ◽  
Vol 42 (5) ◽  
pp. 955-965 ◽  
Author(s):  
Kevin Berendse ◽  
Bart G. P. Koot ◽  
Femke C. C. Klouwer ◽  
Marc Engelen ◽  
Frank Roels ◽  
...  
Keyword(s):  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder

2019 ◽  
Vol 186 ◽  
pp. 107713 ◽  
Author(s):  
Catherine Argyriou ◽  
Anna Polosa ◽  
Bruno Cecyre ◽  
Monica Hsieh ◽  
Erminia Di Pietro ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Mouse Model ◽  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder

scholarly journals A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

2021 ◽  
Vol 27 ◽  
pp. 100754
Author(s):  
Natalia A. Semenova ◽  
Marina V. Kurkina ◽  
Andrey V. Marakhonov ◽  
Elena L. Dadali ◽  
Natalia N. Taran ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder

scholarly journals Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype

2021 ◽  
Author(s):  
Gregory M. Enns ◽  
Zineb Ammous ◽  
Ryan W. Himes ◽  
Janaina Nogueira ◽  
Sirish Palle ◽  
...  
Keyword(s):  
Disease Management ◽  
Spectrum Disorder ◽  
Zellweger Spectrum Disorder
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