Nelson Textbook of Pediatrics 22nd Ed — Section 106.4. Gaucher (glucocerebrosidase), Niemann-Pick (sphingomyelinase), Tay-Sachs (hexosaminidase A), Fabry (α-galactosidase A), Krabbe (galactocerebrosidase), MLD (arylsulfatase A), GM1 gangliosidosis (β-galactosidase). Hepatosplenomegaly, neurodegeneration, cherry-red spot. ERT available for Gaucher type 1, Fabry, Niemann-Pick B.
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