(Q73592941)

English

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

scientific article published on 01 February 2001

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241534%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241534%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Infantile neuronal ceroid lipofuscinosis

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Jansky–Bielschowsky disease

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based on heuristic

inferred from title

author name string

W J Kleijer

1

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Europe PubMed Central

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5 November 2019

O P van Diggelen

2

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5 November 2019

J L Keulemans

3

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5 November 2019

M Losekoot

4

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5 November 2019

V H Garritsen

5

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5 November 2019

H Stroink

6

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5 November 2019

D Majoor-Krakauer

7

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5 November 2019

P F Franken

8

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5 November 2019

M C Eurlings

9

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5 November 2019

P E Taschner

10

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5 November 2019

F J Los

11

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5 November 2019

R J Galjaard

12

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5 November 2019

publication date

1 February 2001

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5 November 2019

Prenatal Diagnosis

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5 November 2019

21

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5 November 2019

2

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5 November 2019

99-101

1 reference

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5 November 2019

The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Prenatal testing for late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Prenatal diagnosis of neuronal ceroid-lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200102%2921%3A2%3C99%3A%3AAID-PD988%3E3.0.CO%3B2-F

21 January 2018

Identifiers

10.1002/1097-0223(200102)21:2<99::AID-PD988>3.0.CO;2-F

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241534%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241534%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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