Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)

2018 ◽  
Vol 42 (3) ◽  
pp. 220-227 ◽  
Author(s):  
Mikako Warren ◽  
Gary Mierau ◽  
Eric P. Wartchow ◽  
Hiroyuki Shimada ◽  
Shoji Yano
Keyword(s):  
Spectrum Disorder ◽  
Refsum Disease ◽  
Infantile Refsum Disease ◽  
Zellweger Spectrum Disorder

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

Autopsy findings in two siblings with infantile Refsum disease

1992 ◽  
Vol 83 (2) ◽  
pp. 190-195 ◽  
Author(s):  
C. W. Chow ◽  
A. Poulos ◽  
A. J. Fellenberg ◽  
J. Christodoulou ◽  
D. M. Danks
Keyword(s):  
Refsum Disease ◽  
Autopsy Findings ◽  
Infantile Refsum Disease

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

Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases

1986 ◽  
Vol 25 (2) ◽  
pp. 257-271 ◽  
Author(s):  
Frank Roels ◽  
Alfons Cornelis ◽  
Bwee Tien Poll-The ◽  
Patrick Aubourg ◽  
Helène Ogier ◽  
...  
Keyword(s):  
Refsum Disease ◽  
Cytochemical Study ◽  
Infantile Refsum Disease

scholarly journals Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.

1986 ◽  
Vol 83 (16) ◽  
pp. 6156-6158 ◽  
Author(s):  
A. W. Schram ◽  
A. Strijland ◽  
T. Hashimoto ◽  
R. J. Wanders ◽  
R. B. Schutgens ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Refsum Disease ◽  
Beta Oxidation ◽  
Infantile Refsum Disease
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