Pre- and postnatal enzyme analysis for infantile,late infantile and adult neuronal ceroid lipofuscinosis (CLN 1 and CLN2)-Reference-Cited by-同舟云学术

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Pre- and postnatal enzyme analysis for infantile,late infantile and adult neuronal ceroid lipofuscinosis (CLN 1 and CLN2)

Published:2001-01 Issue: Volume:5 Page:189-192
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Van Diggelen O.P.,Keulemans J.L.M.,Kleijer W.J.,Thobois S.,Tilikete C.,Voznyi Y.V.

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference14 articles.

1. The neuronal ceroid lipofuscinoses (Batten disease);Goebel;Biomed Health Res,1999

2. Prenatal diagnosis of the neuronal ceroid lipofuscinoses;Kleijer;Prenat Diagn,2000

3. Mutations in the palmitoyl protein thioesterase gene causing INCL;Vesa;Nature,1995

4. Assosiation of mutations in a lysosomal protein with lateinfantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

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

Cited by 24 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. Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview;Frontiers in Neurology;2022-08-12

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

3. Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity;Clinica Chimica Acta;2020-08

4. The CLN3 gene and protein: What we know;Molecular Genetics & Genomic Medicine;2019-09-30

5. Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking;Journal of Biological Chemistry;2019-06

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