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Lysosomal storage dz (Globosides (Niemann-Pick, Fabry, Sandhoff, Krabbe,…
Lysosomal storage dz
Globosides
Niemann-Pick
Fabry
Sandhoff
Krabbe
Metachromatic leukodystrophy
Gaucher
Gaucher
Beta-glucosidase (glucocerebrosidase)
Glucocerebroside accumulation
Leukocutes, fibroblasts
Anemia, hepatosplenomegaly
Ashkenazi Jews
Tissue paper cytoplasm
Lipid-engorged cells
Niemann-Pick
Sphingomyelinase
Sphingomyelin accumulation
Hepatomegaly, etc.
Type A1: cherry red spot
Tay Sachs
HexA
Severe NS disease
Cherry red spot
Ashkenazi Jews
G(m2) ganglioside accumulation
Fabry
Alpha-galactosidase A
Kidney/heart problems
X-linked
Gangliosides
Tay Sachs
Generalized gangliosidosis
Krabbe
Galactocerebrosidase
Globoid cell luekodystrophy
Injury to myelin cells
Galactocerebroside accumulation
Metachromatic leukodystrophy
Sulphagalactocerebroside accumulation
Brain
Arylsulfatase A
Sandhoff
Beta-hexaminidase A & B
Cherry red macula; NS problems
Generalized gangliosidosis
Beta galactosidase
Severe NS diseae
Cholera
Gangliosides