Alexion Pharmaceuticals, Inc.

Christen D Forbes

Nina Jain

Andrew Hutchinson

Rui-Ru Ji

John V W Reynders

Xiao-Qin Ren

Guillermo Del Angel

Barbara Burton

Krista Johnson

Provided herein are high throughput methods for measuring the protease activity of the complement C3 convertase by detecting the consumption of C3 or the production of C3a in vivo and in vitro.

High throughput method for measuring the protease activity of complement C3 convertase

Compositions and methods relating to potentially pathogenic mutations in the nucleotide sequence of a human LIPA gene. Some LIPA gene products have been discovered to be associated with reduced lysosomal acid lipase (LAL) activity.

Lysosomal acid lipase deficiency compositions and methods

Compositions and methods relating to potentially pathogenic mutations in the nucleotide sequence of a human NAGLU gene. Some NAGLU gene variants have been discovered to be associated with reduced N-acetyl-&#x3b1;-D-glucosaminidase (NAGLU) activity.

N-acetyl-alpha-D-glucosaminidase deficiency compositions and methods

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North Haven, CT, United States of America

Christen D Forbes