Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by
lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional …

ContextFabry disease is a metabolic disorder without a specific treatment, caused by a
deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Most patients experience …

Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted
Glucocerebrosidase for Gaucher's Disease | NEJM Skip to main content NEJM Group Follow Us …

FABRY'S disease is a hereditary systemic disorder that was first recognized in affected
males as a disease characterized by multiple small dark-purple macules and papules in the …

Functional activity of N-methyl-d-aspartate (NMDA) receptors requires both glutamate
binding and the binding of an endogenous coagonist that has been presumed to be glycine, …

Although cyclin-dependent kinase 5 (Cdk5) is closely related to other cyclin-dependent
kinases, its kinase activity is detected only in the postmitotic neurons. Cdk5 expression and …

Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…

Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase
A that affects males and shows disease expression in heterozygotes. The characteristic …

A novel family of candidate gustatory receptors (GRs) was recently identified in searches of
the Drosophila genome. We have performed in situ hybridization and transgene experiments …

Materials and Methods.-Sphingomyelin labeled with C14 in the methyl carbonatoms of the
choline portion of the molecule was synthesized as described previously. 7 Samples of liver …