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Lysosomal Disorders of the BrainRecent Advances in Molecular and Cellular Pathogenesis and Treatment$
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Frances Platt and Steven Walkley

Print publication date: 2004

Print ISBN-13: 9780198508786

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780198508786.001.0001

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Primary defects in lysosomal enzymes

Primary defects in lysosomal enzymes

Chapter:
(p.81) Chapter 4 Primary defects in lysosomal enzymes
Source:
Lysosomal Disorders of the Brain
Author(s):

Bryan G. Winchester

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780198508786.003.0004

This chapter begins with a discussion of the molecular genetics of lysosomal enzyme deficiencies. It then discusses the relation of mutations to the structure and function of lysosomal enzymes, and genotype/phenotype correlation in groups of neuronal storage disorders.

Keywords:   lysosomal enzyme deficiencies, mutations, neuronal storage disorders, molecular genetics

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