Danon disease with typical early-onset cardiomyopathy in a male: Focus on a novel LAMP-2 mutation-Reference-Cited by-同舟云学术

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Danon disease with typical early-onset cardiomyopathy in a male: Focus on a novel LAMP-2 mutation

Published:2008-03 Issue:2 Volume:12 Page:246-250
ISSN:1397-3142
Container-title:Pediatric Transplantation
language:en
Short-container-title:

Author:

Bui Yen K.,Renella Pierangelo,Martinez-Agosto Julian A.,Verity Anthony,Madikians Andranik,Alejos Juan C.

Publisher

Wiley

Subject

Transplantation,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-3046.2007.00874.x/fullpdf

Reference36 articles.

1. Lysomomal glycogen storage disease with normal acid mSGPTase levels;Danon;Neurology,1981

2. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2 deficient mice;Tanaka;Nature,2000

3. Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy;Eskelinen;Mol Aspects Med,2006

4. A new congenital form of X-linked autophagic vacuolar myopathy;Yan;Neurology,2005

5. A novel form of autophagic vacuolar myopathy with late onset and multi-organ involvement;Kaneda;Neurology,2003

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multisystem involvement and early onset of Danon’s disease in female children. Clinical cases;Translational Medicine;2024-06-20

2. A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study;CELL J;2024

3. International Consensus on Differential Diagnosis and Management of Patients With Danon Disease;Journal of the American College of Cardiology;2023-10

4. Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease;ESC Heart Failure;2023-06-05

5. Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease;Frontiers in Cardiovascular Medicine;2021-11-25

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