GM2-gangliosidosis, type I (Tay - Sachs disease) in the pediatrician practice

• Autori principali: Natalia V. Zhurkova (Autore), Nato D. Vashakmadze (Autore), Natella V. Sukhanova (Autore), Olga B. Gordeeva (Autore), Natalia S. Sergienko (Autore), Ekaterina Yu. Zaharova (Autore)
• Natura: Libro
• Pubblicazione: Union of pediatricians of Russia, 2021-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell death. The major clinical signs of this disease are r...