scholarly journals The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

2019 ◽  
Vol 42 (2) ◽  
pp. 303-312 ◽  
Author(s):  
Femke C. C. Klouwer ◽  
Bart G. P. Koot ◽  
Kevin Berendse ◽  
Elles M. Kemper ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Extension Study ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy

2018 ◽  
Author(s):  
Femke C. C. Klouwer ◽  
Bart G. P. Koot ◽  
Kevin Berendse ◽  
Elles M. Kemper ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Extension Study ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Cholic acid therapy in Zellweger spectrum disorders

2016 ◽  
Vol 39 (6) ◽  
pp. 859-868 ◽  
Author(s):  
Kevin Berendse ◽  
Femke C. C. Klouwer ◽  
Bart G. P. Koot ◽  
Elles M. Kemper ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Acid Therapy ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

Oral Cholic Acid in Zellweger Spectrum Disorders

2018 ◽  
Vol 66 (2) ◽  
pp. e57 ◽  
Author(s):  
Femke C.C. Klouwer ◽  
Nancy E. Braverman ◽  
Henkjan J. Verkade ◽  
Kevin Berendse ◽  
Hans R. Waterham ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

2018 ◽  
Vol 12 (2) ◽  
pp. 360-372 ◽  
Author(s):  
James E. Heubi ◽  
Kenneth D.R. Setchell ◽  
Kevin E. Bove
Keyword(s):  
Bile Acid ◽  
Liver Function ◽  
Bile Acids ◽  
Cholic Acid ◽  
Feedback Inhibition ◽  
Oral Treatment ◽  
Acid Therapy ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs has been linked to accumulation of C27-bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form primary C24-bile acids. Oral treatment with primary bile acid, cholic acid (CA), inhibits formation of hepatotoxic C27-bile acids by restoring normal physiologic feedback inhibition on bile acid synthesis. We present the long-term CA treatment and liver-related outcomes for 3 pediatric patients with ZSDs who have received CA treatment for ≥15 years. Ongoing CA treatment was associated with stabilized liver function, as shown by serum biochemistries and liver histopathology, and no treatment-related adverse effects were observed. All 3 patients have attended regular school with classroom accommodations and attained a good quality of life. Our patient outcomes suggest that early and ongoing CA therapy may sustain liver function in patients with ZSDs.

scholarly journals A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Amale Bousfiha ◽  
Amina Bakhchane ◽  
Hicham Charoute ◽  
Zied Riahi ◽  
Khalid Snoussi ◽  
...  
Keyword(s):  
Moroccan Family ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Development and validation of a severity scoring system for Zellweger spectrum disorders

2017 ◽  
Vol 93 (3) ◽  
pp. 613-621 ◽  
Author(s):  
F.C.C. Klouwer ◽  
A. Meester-Delver ◽  
F.M. Vaz ◽  
H.R. Waterham ◽  
R.C.M. Hennekam ◽  
...  
Keyword(s):  
Scoring System ◽  
Severity Scoring ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders ◽  
Development And Validation

Lifelong course of Zellweger spectrum disorders: A cohort study

2017 ◽  
Vol 21 ◽  
pp. e2
Author(s):  
Femke C.C. Klouwer ◽  
Kevin Berendse ◽  
Marc Engelen ◽  
Frédéric M. Vaz ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cohort Study ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Kevin Berendse ◽  
Marc Engelen ◽  
Gabor E Linthorst ◽  
AS Paul van Trotsenburg ◽  
Bwee Tien Poll-The
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
High Prevalence ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders
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