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GM2 gangliosidosis, AB variant
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Disease definition
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
ORPHA:309246
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (55)
- Clinical trial(s) (2)
- Biobank(s) (11)
- Registry(ies) (25)
- Network of experts (9)
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.