(Q46978879)

27 December 2017

title

Danon disease presenting with dilated cardiomyopathy and a complex phenotype (English)

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27 December 2017

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dilated cardiomyopathy

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18

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27 December 2017

Jeffrey A Towbin

17

object named as

Jeffrey A Towbin

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27 December 2017

author name string

Matthew R G Taylor

1

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27 December 2017

Lisa Ku

2

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27 December 2017

Dobromir Slavov

3

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27 December 2017

Jean Cavanaugh

4

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27 December 2017

Mark Boucek

5

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27 December 2017

Xiao Zhu

6

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27 December 2017

Sharon Graw

7

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27 December 2017

Elisa Carniel

8

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27 December 2017

Carl Barnes

9

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27 December 2017

Dianna Quan

10

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27 December 2017

Ryan Prall

11

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27 December 2017

Mark A Lovell

12

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27 December 2017

Gary Mierau

13

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27 December 2017

Patsy Ruegg

14

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27 December 2017

Naresh Mandava

15

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27 December 2017

Michael R Bristow

16

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27 December 2017

Familial Cardiomyopathy Registry

19

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27 December 2017

publication date

1 January 2007

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27 December 2017

Journal of Human Genetics

published in

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27 December 2017

volume

52

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27 December 2017

issue

10

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27 December 2017

page(s)

830-835

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27 December 2017

https://scigraph.springernature.com/pub.10.1007/s10038-007-0184-8

exact match

0 references

cites work

Lysosomal glycogen storage disease with normal acid maltase

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0184-8

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0184-8

Clinicopathological features of genetically confirmed Danon disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0184-8

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

21 January 2018

1 reference

12 December 2020

[WPW syndrome combined with AV block 2 in an adult with glycogenosis (Type II)]

1 reference

12 December 2020

Characterization of Danon disease in a male patient and his affected mother

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12 December 2020

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

1 reference

12 December 2020

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

12 December 2020

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12 December 2020

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

1 reference

12 December 2020

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

1 reference

12 December 2020

Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome

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12 December 2020

Ophthalmic manifestations of Danon disease

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12 December 2020

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

1 reference

12 December 2020

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

12 December 2020

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

12 December 2020

X-linked dilated cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

1 reference

12 December 2020

10.1007/S10038-007-0184-8

Identifiers

DOI

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27 December 2017

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27 December 2017