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Disease definition

A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.

The portal for rare diseases and orphan drugs

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Rare disorder potentially indicated for transplant

ORPHA:506207

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening