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Tayova-Sachsova choroba, AB variant

Subject h.	Tayova-Sachsova choroba, AB variant
Subject h.	Tay-Sachs Disease, AB Variant
Entry terms	Tayova-Sachsova choroba, AB forma choroba z deficitu aktivátora proteínu GM2 gangliozidóza GM2, AB variant gangliozidóza GM2, AB forma gangliozidóza GM2, typ AB gangliozidóza GM2 typu AB choroba z deficitu aktivátora proteínu GM2
English X references	GM2 Protein Activator Deficiency Disease Gangliosidosis GM2, AB Variant Gangliosidosis GM2, Type AB
Scope note in English	A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
See also reference (FX) in Slovak	proteín aktivátorový G(M2)
See also reference (FX) in English	G(M2) Activator Protein
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Počet záznamov: 1