(Q44806253)

6 December 2017

title

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect (English)

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6 December 2017

Emily de los Reyes

1

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6 December 2017

Paul Richard Dyken

2

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6 December 2017

Paul Phillips

3

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6 December 2017

Michael Brodsky

4

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6 December 2017

Stephen Bates

5

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6 December 2017

Charles Glasier

6

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6 December 2017

Robert E Mrak

7

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6 December 2017

publication date

1 January 2004

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Journal of Child Neurology

6 December 2017

published in

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6 December 2017

volume

19

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6 December 2017

issue

1

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6 December 2017

page(s)

42-46

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New mutations in the neuronal ceroid lipofuscinosis genes.

6 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

The protracted form of juvenile neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Batten's disease: clues to neuronal protein catabolism in lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

Spectrum of mutations in the Batten disease gene, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738040190010703

10.1177/08830738040190010703

21 January 2018

Identifiers

DOI

0 references

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