Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand
We report a 7-month-old Thai girl diagnosed with a Niemann-Pick Disease (NPD) Type A. Hepatosplenomegaly was initially noticed at the age of 2 months. She developed progressive neurodevelopmental delay at 5 months. Other typical manifestations include coarse facies, cherry red spot of macula, hypoto...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-03-01
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| Series: | Global Pediatrics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667009723000623 |