Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand

• मुख्य लेखकों: Thitima Ngoenmak (लेखक), Julintorn Somran (लेखक), Montana Foonoi (लेखक), Klaita Srisingh (लेखक), Nun Singpan (लेखक), Thipwimol Tim-Aroon (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2024-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...