Lysosomal acid lipase deficiency in a 6-year-old child: case report
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders. This pathology is linked with LIPA gene impairing mutations on chromosome 10 in locus 10q24-q25, coding lysosomal acid lipase enzyme (chole...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Balkan Medical Union
2020-12-01
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| Series: | Archives of the Balkan Medical Union |
| Subjects: | |
| Online Access: | https://umbalk.org/lysosomal-acid-lipase-deficiency-in-a-6-year-old-child-case-report/ |