GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

• Main Authors: Artem A. Babkin (Author), Vladimir A. Shcherbak (Author), Elena V. Leontieva (Author), Lada A. Kirii (Author)
• פורמט: ספר
• יצא לאור: "Paediatrician" Publishers LLC, 2024-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in the patient originating from the Buryat natio...