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News

NewsAndrea Tan2026-07-20T18:14:08+08:00

Latest Annoucement: New Publication from Citrin Foundation on Lived Experiences from Adults with Citrin Deficiency

05/05/2026

We are pleased to announce the publication of new research paper on citrin deficiency (CD) in Molecular Genetics and Metabolism titled “Patient Experience Informing Outcomes and Research in Rare Disease: Citrin Deficiency as a Case Study”.

This work was conceived and conducted by the Citrin Foundation.

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2026

New publication in Molecular Genetics and Metabolism titled “Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots”

27/03/2026

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2025

New publication in Molecular Genetics and Metabolism titled “The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study”

14/08/2025

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Citrin Foundation and University Children’s Hospital Zürich Launch First Center for Translational Research in Urea Cycle Disorders

22/05/2025

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New publication “Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review” by Jun Kido and Johannes Häberle

22/4/2025

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New publication titled “Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency”

27/3/2025

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2024

New review publication by Professor Sir John E. Walker (University of Cambridge) titled “My Path to Citrin Deficiency”

24/11/2024

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New Publication on “Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport”

16/10/2024

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“The Therapeutic Landscape of Citrin Deficiency” Publication by Dr. Toni Vuković, Professor Johannes Häberle, and the Citrin Foundation Team

17/7/2024

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New Publication on “The model of citrin deficiency: Adopting a new approach to rare diseases”

04/4/2024

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Professor Jun Kido and Professor Johannes Häberle’s New Publication on the “Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition”

19/3/2024

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2023

Publication by Dr. Jun Kido on “Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening”

08/9/2023

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New Publications on Citrin Deficiency by Professor Paul Yen’s Team and Professor Jorgina Satrústegui’s Team

22/3/2023

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2022

Dr. Sotiria Tavoulari (Roula) and Professor Edmund Kunji publishes an updated overview of Citrin Deficiency

17/6/2022

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Appointment of Professor Hannele Yki-Järvinen as a member of the Scientific Supervisory Board

20/5/2022

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2021

Appointment of Professor Johannes Häberle as a member of the Scientific Supervisory Board

1/11/2021

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Eulogy for Dr. Yoshiyuki Okano

26/10/2021

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Appointment of Sir John Walker as the Chairman of Citrin Foundation’s Scientific Supervisory Board

14/10/2021

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Dr. Yoshiyuki Okano publishes the updated food preference of Citrin Deficiency patients

6/9/2021

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ChromaDex and Citrin Foundation Announce Global Research Collaboration Exploring Citrin Deficiency

30/3/2021

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Dr Yoshiyuki Okano publishes updated dietary survey for Citrin Deficiency patients

21/3/2021

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Dr Yoshiyuki Okano publishes updated dietary survey for Citrin Deficiency patients

21/3/2021

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2020

Professor Takeyori Saheki publishes the history of identification and the construction of therapeutic procedures for Citrin Deficiency

4/6/2020

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2019

Dr Yoshiyuki Okano publishes the first Medical Treatment Guideline for Citrin Deficiency patients

13/8/2019

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Professor Takeyori Saheki publishes a major breakthrough in scientific research

12/3/2019

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Two independent organisations both have the name “Citrin Foundation”: Citrin Foundation (UK), a Charity registered in England and Wales (Charity no. 1216137) and Citrin Foundation Ltd. (Singapore), a Charity registered in Singapore (Company no. 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 Ltd. (Singapore)
Registered as a Charity (Grantmaker) under the Charities Act 1994
Registered Office: 6 Temasek Boulevard Suntec Tower Four, Singapore 038986
Company limited by guarantee in Singapore (no. 201635027D)

© 2016 - 2026

Citrin Foundation (UK)
Registered as a Charity in England & Wales
Charity Registration Number 1216137
Registered Office: The Universal Building, 2nd floor, 364-366 Kensington High Street, London, W14 8NS
Company limited by guarantee in England and Wales (no. 15940318)

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