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Found 5 publications

Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 27, 2021
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Summary: Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

Cholbam® and Zellweger spectrum disorders: treatment implementation and management.

Condition: Zellweger Spectrum Disorders (ZSDs)
Journal: Orphanet journal of rare diseases
Treatment Used: Cholbam®
Number of Patients: 0
Published: September 15, 2021
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Summary: This article discusses the use of Cholbam® in the treatment of patients with Zellweger spectrum disorders (genetic peroxisome disorder; ZSDs).

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Journal: Advances in experimental medicine and biology
Published: January 08, 2021
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Summary: Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk.

Journal: Advances in experimental medicine and biology
Published: January 08, 2021
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Summary: Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk.

Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.

Condition: Bile Acid Synthesis Disorders
Journal: Journal of pediatric gastroenterology and nutrition
Treatment Used: Cholic Acid
Number of Patients: 53
Published: January 04, 2020
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Summary: In this study, researchers evaluated the safety and effectiveness of cholic acid for the treatment of bile acid synthesis disorders.
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