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CITRIN DEFICIENCY
What is Citrin Deficiency?
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Research – Basic Science
Ongoing
Consequences of citrin mutations II
Generation of Aralar-KO mouse model
Citrin biogenesis & trafficking
Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies
Metabolic alterations in vivo in liver of rodent CD double knock-out model and effects of redox manipulations
Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency
Concluded
Study of fatty liver in CD mouse model
Characterizing a CD cellular model
Consequences of citrin mutations I
Study of CD using double-KO mouse model
ASS1 post-translational regulation
Research – Therapies
Ongoing
Improved amino acid delivery
Gene editing for CD
Modulating NAD+ in CD
Concluded
Substituting citrin with aralar
Clinical Study of LOLA
Research – Clinical
Ongoing
Citrin Foundation Global Omics Study
Citrin Deficiency Center of Excellence
Natural history of CD
Detailed genetic testing for CD
Concluded
Publications
Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
Food Preferences of Patients with Citrin Deficiency
Analysis of dietary intake in citrin-deficient patients: Towards the prevention of CTLN2
Summary of analysis
Recognition of and construction of therapeutic procedures for citrin deficiency
Current treatment of Citrin Deficiency
Publication of Scientific Discovery
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Citrin Foundation 2nd In-Person Global Symposium 2023
2023 Global Symposium
64th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
6th Asian Congress on Inherited Metabolic Diseases
44th Society for Inherited Metabolic Disorders (SIMD) Annual Meeting
63rd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
Ureagenesis Conference 2022
Citrin Foundation Global Research Symposium 2019
Inaugural Event Seminar on Citrin Deficiency
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Citrin Deficiency
What is Citrin Deficiency?
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yurika
2026-01-27T15:18:02+08:00
Please click on the title of each event to learn more.
2024
Citrin Deficiency in Malaysia for Professionals
22nd November
Eating Disorders Information Session for Professionals
27th March
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