(Q48227546)

9 February 2018

title

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. (English)

1 reference

9 February 2018

neuronal ceroid lipofuscinosis

main subject

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R Kälviäinen

1

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9 February 2018

K Eriksson

2

1 reference

9 February 2018

M Losekoot

3

1 reference

9 February 2018

I Sorri

4

1 reference

9 February 2018

I Harvima

5

1 reference

9 February 2018

P Santavuori

6

1 reference

9 February 2018

I Järvelä

7

1 reference

9 February 2018

T Autti

8

1 reference

9 February 2018

R Vanninen

9

1 reference

9 February 2018

T Salmenperä

10

1 reference

9 February 2018

O P van Diggelen

11

1 reference

9 February 2018

publication date

1 April 2007

1 reference

9 February 2018

European Journal of Neurology

published in

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9 February 2018

volume

14

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9 February 2018

issue

4

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9 February 2018

page(s)

369-372

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9 February 2018

Studies of atypical JNCL suggest overlapping with other NCL forms.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

Cultured allogeneic skin cells are effective in the treatment of chronic diabetic leg and foot ulcers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01668.X

10.1111/J.1468-1331.2007.01668.X

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

PubMed ID

17388982

1 reference

9 February 2018