“The Classical Galactosemia European Care Pathway” is now available

MetabERN is pleased to inform you that “The Classical Galactosemia European Care Pathway” is now available. This initiative was spearheaded by Mrs Maaike van Kempen, Mrs Clementine Bry, Prof. Estela Rubio-Gozalbo, Prof. Eileen Treacy, and Prof. Annet Bosch in collaboration with JARDIN Joint Action. The pathway is built upon the International Clinical Guideline for the Management of […]

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EVALUATING THE DIRECT AND INDIRECT COSTS OF FABRY DISEASE IN ITALY

News, News for Patients, Resources

The Italian Anderson-Fabry Association commissioned a survey by C.R.E.A. Sanità in 2018 to evaluate various socio-economic aspects affecting the families and patients living with Fabry disease, such as the quality of life, methods of treatment, support from the National Health Service, and the costs related to the treatment of the disease. 106 patients with a confirmed diagnosis of

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Rare disease education in Europe – read the new publication

News, Resources

Leading experts publish a position paper highlighting the urgent need for improved rare disease education across European healthcare.

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Inflammation & Immunomodulatory Drugs in MPS – New pubblication

News, Resources

MetabERN members publish groundbreaking research on inflammation and immunomodulatory treatment for Mucopolysaccharidoses patients.

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New COVID-19 publication: infection rates and symptoms in IMD patients

News, Resources

MetabERN study on COVID-19 infection rates and symptoms in patients with inherited metabolic diseases, published in Orphanet Journal of Rare Diseases.

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#ERNcare4UA – A dedicated website to help health professionals find support for Ukrainian patients

News, Resources

The #ERNcare4UA website helps health professionals find diagnosis, treatment, and support for Ukrainian patients with rare diseases across Europe.

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Newborn screening – read the new publication

News, Resources

Read the comment paper “Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe” published at the Lancet Regional Health – Europe. Citation: Scarpa M, Bonham JR, Dionisi-Vici C, Prevot J, Pergent M, Meyts I, Mahlaoui N, Schielen PCJI. Newborn screening as a fully integrated system to stimulate equity in neonatal

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