# metachromatic leukodystrophy

> human disease

**Wikidata**: [Q1120682](https://www.wikidata.org/wiki/Q1120682)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Metachromatic_leukodystrophy)  
**Source**: https://4ort.xyz/entity/metachromatic-leukodystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Klinická neurologie část speciální
5. PubMed
6. Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy
7. An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
8. Molecular basis of different forms of metachromatic leukodystrophy
9. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy
10. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy
11. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100299/MONDO_0018868)
13. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)