Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

• Main Authors: Nataliya V. Zhurkova (Author), Nato V. Vashakmadze (Author), Andrey N. Surkov (Author), Tatiana V. Turti (Author), Kristina V. Bogdanova (Author), Yuliya Yu. Kotalevskaya (Author), Ekaterina Yu. Zakharova (Author), Leyla S. Namazova-Baranova (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease's clinical cases is crucial for early diagnosis and adequate management due to its rarity, r...