Latest Announcement:

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”.

We are pleased to announce the publication of new research paper on citrin deficiency (CD) in Molecular Genetics and Metabolism titled “The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study”.

This work was partially supported by Citrin Foundation. It was first-authored by Jun Kido, with Kimitoshi Nakamura (Kumamoto University) as senior author, and included contributions from Johannes Häberle (University Children’s Hospital Zürich), their longstanding collaborator.

You may find the paper and read more about it here.

 

 

Here’s a list of announcements from Citrin Foundation on latest updates, publications and scientific breakthroughs. Please click on the title of the article to find out more.

22/05/2025: Citrin Foundation and University Children’s Hospital Zürich Launch First Center for Translational Research in Urea Cycle Disorders

22/4/2025: New publication “Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review” by Jun Kido and Johannes Häberle

27/3/2025: New publication titled “Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency”

24/11/2024: New review publication by Professor Sir John E. Walker (University of Cambridge) titled “My Path to Citrin Deficiency”

16/10/2024: New Publication on “Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport”

17/7/2024: “The Therapeutic Landscape of Citrin Deficiency” Publication by Dr. Toni Vuković, Professor Johannes Häberle, and the Citrin Foundation Team

04/4/2024: New Publication on “The model of citrin deficiency: Adopting a new approach to rare diseases”

19/3/2024: Professor Jun Kido and Professor Johannes Häberle’s New Publication on the “Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition”

08/9/2023: Publication by Dr. Jun Kido on “Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening”

22/3/2023: New Publications on Citrin Deficiency by Professor Paul Yen’s Team and Professor Jorgina Satrústegui’s Team

17/6/2022: Dr. Sotiria Tavoulari (Roula) and Professor Edmund Kunji publishes an updated overview of Citrin Deficiency

20/5/2022: Appointment of Professor Hannele Yki-Järvinen as a member of the Scientific Supervisory Board

1/11/2021: Appointment of Professor Johannes Häberle as a member of the Scientific Supervisory Board

26/10/2021: Eulogy for Dr. Yoshiyuki Okano

14/10/2021: Appointment of Sir John Walker as the Chairman of Citrin Foundation’s Scientific Supervisory Board

6/9/2021: Dr. Yoshiyuki Okano publishes the updated food preference of Citrin Deficiency patients

30/3/2021: ChromaDex and Citrin Foundation Announce Global Research Collaboration Exploring Citrin Deficiency

21/3/2021: Dr Yoshiyuki Okano publishes updated dietary survey for Citrin Deficiency patients

4/6/2020: Professor Takeyori Saheki publishes the history of identification and the construction of therapeutic procedures for Citrin Deficiency

13/8/2019: Dr Yoshiyuki Okano publishes the first Medical Treatment Guideline for Citrin Deficiency patients

12/3/2019: Professor Takeyori Saheki publishes a major breakthrough in scientific research