The anonymous survey to answer questions about the needs of patients is now online.

Please participate!

Within CHARLIE researchers in six countries work every day to learn more about the diseases PDE and GA1. The ultimate goal is to be able to offer patients more and ...

October 17, 2023 a Charlie Consortium Partner meeting took place in Amsterdam. Partners from Radboud UMC, German Mouse Clinic Munich, University Hospital Heidelberg, Centro de Investigación Biomédica en Red Barcelona, University of Luxembourg, UBC, University of Florence, University of Colorado and patientorganisations in the Netherlands and Spain ...

Updated consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency are now available.

The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with ...

The article 'Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9' is now available online, containing full bibliographic details.

Imke Schuurmans, Ka Wu, Nael Nadif Kasri, Alejandro Garanto, all affiliated to Radboud UMC and Clara van Karnebeek affiliated to Amsterdam ...

Dr. Nikolas Boy, Prof. Dr. Stefan Kölker and Katja Sahm, all related to the Heidelburg University Hospital have created an updated edition of the initial guideline for patients who have been diagnosed with glutaric aciduria type I.

This edition is directed primarily at parents and patients. It is designed to answer the most frequent questions, ...

On July 5th, the FAMILIASGA association organized an informative webinar in Spanish aimed at Spanish families to explain in an understandable way the basic objectives of the CHARLIE project, as well as some of the most relevant results obtained so far by the research groups of Álex Garanto, Cristina Fillat and Judit García Villoria. The webinar was ...

Charlie is an international research consortium joining expertise from different countries. In order to understand the key steps for this association workflow we will try to introduce our teams, their work, and their role.

One of our collaborators is the newborn screening, clinical chemistry, and pharmacology laboratory in IRCCS - Meyer Children's ...

Imke Schuurmans, Bianca Dimitrov, Antonia Ribes, Clara van Karnebeek, Stefan Kölker and Alejandro Garanto, all members in the Charlie Consortium had their article 'Exploring genotype–phenotype correlations in glutaric aciduria type 1' published in the Journal of Inherited Metabolic Disease.

Please follow the link for the full article.