Pre- and postnatal diagnosis of patients withCLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities-Reference-Cited by-同舟云学术

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Pre- and postnatal diagnosis of patients withCLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities

Published:2001-01 Issue: Volume:5 Page:193-196
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Young Elisabeth P.,Worthington Viki C.,Jackson Marie,Winchester Bryan G.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

2. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLNI) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits;Mitchison;Hum Mol Gen,1998

3. Association of mutations in a lysosomal protein with classical lateinfantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

4. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I;Vines;FEBS Lett,1999

5. Isolation of a novel gene underlying Batten disease, CLN3;The International Batten Disease Consortium;Cell,1995

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The LINCE Project: A Pathway for Diagnosing NCL2 Disease;Frontiers in Pediatrics;2022-03-29

2. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2021-04-20

3. Neuronal Ceroid-Lipofuscinoses;2017

4. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2015-11-23

5. Human pathology in NCL;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2013-11

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