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Cobalamin-Related Remethylation Disorders and MTHFR Deficiency Guidelines Webinar


Thank you to everyone who attended the online webinar featuring Dr. Carlo Dionisi-Vici, one of the first authors of the Guidelines for diagnosis and management of the cobalamin-related remethylation disorder cblC, cblD, cblE, cblF, cblJ and MTHFR deficiency from the Journal of Inherited Metabolic Disorders. You can read the guidelines here.

Speaker Bio: Dr. Carlo Dionisi-Vici

Dr. Carlo Dionisi-Vici, paediatrician is Head of the Unit of Metabolic Disease at the Bambino Gesù Children’s Research Hospital in Rome, Italy; is President of the Italian Society for Inborn Errors of Metabolism and Neonatal Screening (SIMMESN) and Council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM). His clinical and research focus includes organic acidemias, urea cycle defects, homocystinurias, management of metabolic emergencies, mitochondrial and lysosomal disorders and hyperinsulinism. He has conducted translational research for the development of guidelines in inborn errors of metabolism and applied new technologies to improve diagnosis, prevention and treatment of metabolic diseases.

We hope that you attend what is promised to be an informative webinar on the CblC Deficiency Guidelines. If you have any questions please do not hesitate to contact us.

To stay up to date with the upcoming webinar and other homocystinuria news, register for the HCU e-News.


16th May 2017
6:00 pm - 8:00 pm


HCU Network Australia