Enzyme-based Diagnosis of Classical Late Infantile Neuronal Ceroid Lipofuscinosis: Comparison of Tripeptidyl Peptidase I and Pepstatin-insensitive Protease Assays
Author:
Affiliation:
1. Center for Advanced Biotechnology and Medicine, Department of Pharmacology, Robert Wood Johnson Medical School-University of Medicine and Dentistry of New Jersey, 679 Hoes Lane, Piscataway, NJ 08854
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/46/7/1005/32721414/clinchem1005.pdf
Reference13 articles.
1. Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder
2. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
3. Spectrum of Mutations in the Batten Disease Gene, CLN3
4. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
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