Concepedia

Enzyme-based Diagnosis of Classical Late Infantile Neuronal Ceroid Lipofuscinosis: Comparison of Tripeptidyl Peptidase I and Pepstatin-insensitive Protease Assays

István Sohár, Li Lin, Peter Lobel

Clinical Chemistry · 2000 · 64 citations · 12 references

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Concepts

Abstract

measured concentrations of the dipeptides -Glu-Cys and Cys-Gly suggest that their reliable assessment necessitates immediate SBD-F derivatization.

References

12

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

David E. Sleat, Robert Donnelly, Henry Lackland et al. · Science · 1997 · 583 citations

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Spectrum of Mutations in the Batten Disease Gene, CLN3

Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe et al. · The American Journal of Human Genetics · 1997 · 206 citations · Full text

, , +5

Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

David E. Sleat, Rosalie M. Gin, István Sohár et al. · The American Journal of Human Genetics · 1999 · 180 citations · Full text

, , +16

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Amit Kumar Das, Carlos Becerra, Weijie Yi et al. · Journal of Clinical Investigation · 1998 · 156 citations · Full text

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Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I<sup>1</sup>

David J. Vines, Michael J. Warburton · FEBS Letters · 1999 · 155 citations · Full text

, , +17