(Q58036390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

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

1 reference

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20 December 2019

1 reference

1 reference

8

1 reference

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20 December 2019

author name string

Kazuma Sugie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Tateo Koori

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Ayaka Yamamoto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Megumu Ogawa

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Michio Hirano

5

1 reference

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20 December 2019

Kiyoharu Inoue

6

1 reference

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20 December 2019

Ikuya Nonaka

7

1 reference

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20 December 2019

publication date

1 November 2003

1 reference

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20 December 2019

published in

Neuromuscular Disorders

1 reference

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20 December 2019

volume

13

1 reference

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20 December 2019

issue

9

1 reference

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20 December 2019

page(s)

708-711

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

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

20 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Clinicopathological features of genetically confirmed Danon disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Lysosomal glycogen storage disease with normal acid maltase

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Lysosomal glycogen storage disease without acid maltase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900105-6

7 January 2021

10.1016/S0960-8966(03)00105-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14561493%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference