Cone-rod dystrophy can be a manifestation of Danon disease (Q35904516)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290069%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

case report

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title

Cone-rod dystrophy can be a manifestation of Danon disease (English)

1 reference

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21 January 2020

1 reference

1 reference

6

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21 January 2020

author name string

Alberta A H J Thiadens

1

1 reference

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21 January 2020

Niki W R Slingerland

2

1 reference

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21 January 2020

Ralph J Florijn

3

1 reference

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21 January 2020

Gerhard H Visser

4

1 reference

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21 January 2020

Frans C Riemslag

5

1 reference

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21 January 2020

publication date

1 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290069%20AND%20SRC:MED&resulttype=core&format=json

Graefe's Archive for Clinical and Experimental Ophthalmology

21 January 2020

published in

1 reference

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21 January 2020

volume

250

1 reference

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21 January 2020

issue

5

1 reference

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21 January 2020

page(s)

769-774

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https://scigraph.springernature.com/pub.10.1007/s00417-011-1857-8

21 January 2020

exact match

0 references

cites work

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332371

Retinopathy in Danon disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332371

Ophthalmic manifestations of Danon disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332371

The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon organization in two genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332371

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation

11 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-011-1857-8

ISCEV Standard for full-field clinical electroretinography (2008 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-011-1857-8

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-011-1857-8

Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-011-1857-8

Extension of the clinical spectrum of Danon disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22290069

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00417-011-1857-8

1 reference

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21 January 2020

1 reference

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21 January 2020

1 reference

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