A novel homozygous mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report
Metachromatic leukodystrophy (MLD) is a genetic lysosomal disease. Here, we investigated the role of prosaposin ( PSAP ) gene mutations in MLD. This current case report describes a female patient who presented with motor development regression at two years and five months of age. The symptoms includ...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2024-11-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605241301877 |
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