(Q57394776)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11506414%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11506414%20AND%20SRC:MED&resulttype=core&format=json

neuronal ceroid lipofuscinosis

10 November 2019

main subject

patient

0 references

1 reference

7

1 reference

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10 November 2019

author name string

O P van Diggelen

1

1 reference

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10 November 2019

S Thobois

2

1 reference

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10 November 2019

C Tilikete

3

1 reference

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10 November 2019

M T Zabot

4

1 reference

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10 November 2019

J L Keulemans

5

1 reference

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10 November 2019

P A van Bunderen

6

1 reference

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10 November 2019

M Losekoot

8

1 reference

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10 November 2019

Y V Voznyi

9

1 reference

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10 November 2019

publication date

1 August 2001

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10 November 2019

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10 November 2019

volume

50

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10 November 2019

issue

2

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10 November 2019

page(s)

269-272

1 reference

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

10 November 2019

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

21 January 2018

1 reference

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.1103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11506414%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference