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

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...

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Main Authors: Artem A. Babkin (Author), Vladimir A. Shcherbak (Author), Elena V. Leontieva (Author), Lada A. Kirii (Author)
Format: Book
Published: "Paediatrician" Publishers LLC, 2024-09-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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