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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
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      • 44th Society for Inherited Metabolic Disorders (SIMD) Annual Meeting
      • 63rd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
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Contact Usadmin2025-09-18T18:03:39+08:00

Citrin Foundation Ltd.

[Singapore Entity] 6 Temasek Boulevard
#38-05 Suntec Tower Four
Singapore 038986

[UK Entity] The Universal Building
2nd floor, 364-366 Kensington
High Street, London, W14 8NS

info@citrinfoundation.org

www.citrinfoundation.org


I agree to the Privacy Policies of Citrin Foundation (UK) and Citrin Foundation (Singapore), and consent to my personal data being shared between these entities for purposes aligned with their charitable missions, including research, patient support and efforts to advance the understanding and treatment of citrin deficiency.

Citrin Foundation Ltd.

6 Temasek Boulevard
#38-05 Suntec Tower Four
Singapore 038986
info@citrinfoundation.org
www.citrinfoundation.org

I agree to the Privacy Policies of Citrin Foundation (UK) and Citrin Foundation (Singapore), and consent to my personal data being shared between these entities for purposes aligned with their charitable missions, including research, patient support and efforts to advance the understanding and treatment of citrin deficiency.

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What Is Citrin Deficiency?
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What Is Citrin Deficiency?
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Two independent organisations both have the name “Citrin Foundation”: Citrin Foundation (UK), a charitable company registered in England and Wales (Company Number 15940318) and Citrin Foundation Ltd. (Singapore), a registered charity in Singapore (Company Registration Number: 201635027D. These organisations share a common mission which they each work to achieve (separately and in collaboration with each other). Each organisation is separate, independent and responsible for its own activities

Citrin Foundation (Company Registration Number: 201635027D)
6 Temasek Boulevard Suntec Tower Four, Singapore 038986
Registered as a Charity (Grantmaker) under the Charities Act 1994

© 2016 - 2026

Citrin Foundation (Company Registration Number: 15940318)
Registered as a Charity in England & Wales with Charity Registration Number 1216137
Registered Office: The Universal Building, 2nd floor, 364-366 Kensington High Street
London, W14 8NS

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