The Natural History of Danon Disease: Lesson Learned from a Global Registry
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2019.07.257
Abstract: Introduction Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy due to LAMP-2 mutation. DD is characterized by high penetrance, severe predominantly hypertrophic cardiomyopathy, cognitive and skeletal muscle as well as vision impairment. Due… read more here.
Keywords: history danon; natural history; danon disease; history ... See more keywords
Cardiac Transplantation in Danon Disease.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of cardiac failure"
DOI: 10.1016/j.cardfail.2021.11.007
Abstract: BACKGROUND Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy caused by mutations in the lysosome-associated membrane protein-2 (LAMP-2) gene that is usually lethal without cardiac transplantation. The purpose of this study is to… read more here.
Keywords: graft survival; cardiac transplantation; danon disease; cohort ... See more keywords
Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
Sign Up to like & getrecommendations! Published in 2017 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2017.06.031
Abstract: INTRODUCTION Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS We… read more here.
Keywords: malignant cardiac; danon disease; cardiac phenotypic; phenotypic expression ... See more keywords
Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.
Sign Up to like & getrecommendations! Published in 2021 at "Trends in cardiovascular medicine"
DOI: 10.1016/j.tcm.2021.10.012
Abstract: Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation. Cardiac involvement can be fatal in the absence of an effective… read more here.
Keywords: clinical features; lamp deficiency; danon disease; disease insights ... See more keywords
Impaired mitophagy facilitates mitochondrial damage in Danon disease.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of molecular and cellular cardiology"
DOI: 10.1016/j.yjmcc.2017.05.007
Abstract: RATIONALE Lysosomal associated membrane protein type-2 (LAMP-2) is a highly conserved, ubiquitous protein that is critical for autophagic flux. Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized… read more here.
Keywords: lamp; heart; dysfunction; danon disease ... See more keywords
YOUNG PATIENT WITH DANON DISEASE PRESENTING WITH HIGH DEGREE ATRIO-VENTRICULAR BLOCK
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(18)33080-8
Abstract: Danon disease is a rare glycogen storage disease. Cardiac involvement results in Wolff-Parkinson-White (WPW) syndrome, left ventricular hypertrophy and ventricular fibrosis. The majority of patients die in early adulthood either from end-stage cardiomyopathy or ventricular… read more here.
Keywords: disease presenting; patient danon; danon disease; disease ... See more keywords
DESCRIPTION OF LEFT VENTRICULAR STRAIN IN DANON DISEASE: INSIGHTS FROM A GLOBAL REGISTRY
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(20)31553-9
Abstract: Danon Disease (DD) is a rare X-linked disorder due to mutations in the Lysosomal Associated Membrane Protein 2 (LAMP-2) gene and causes severe cardiac manifestations. Longitudinal strain (LS) has emerged as a diagnostic and prognostic… read more here.
Keywords: danon disease; description left; danon; strain ... See more keywords
Review: Danon disease: Review of natural history and recent advances
Sign Up to like & getrecommendations! Published in 2019 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12587
Abstract: Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is… read more here.
Keywords: review danon; danon disease; review natural; disease ... See more keywords
Possible contamination of expressed breast milk by SARS‐CoV‐2
Sign Up to like & getrecommendations! Published in 2021 at "Pediatrics International"
DOI: 10.1111/ped.14607
Abstract: 1 Nishino I, Fu J, Tanji K et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406: 906–10. 2 D’souza RS, Levandowski C, Slavov D et al. Danon disease:… read more here.
Keywords: contamination expressed; danon disease; expressed breast; danon ... See more keywords
Heart transplantation in two adolescents with Danon disease
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Transplantation"
DOI: 10.1111/petr.13335
Abstract: Danon disease (DD) is an X‐linked dominant disorder caused by a mutation in the lysosomal‐associated membrane protein‐2 (LAMP‐2) gene coding for the LAMP‐2 protein. We report two cases of successful heart transplantation (HT) in adolescent… read more here.
Keywords: two adolescents; danon disease; transplantation; heart transplantation ... See more keywords
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Ophthalmology"
DOI: 10.1177/1120672119832183
Abstract: Introduction: Lysosome-associated membrane protein 2 plays an important role in autophagy and lysosomal function and its mutation is responsible for pathogenesis of Danon disease, which can cause retinopathy, though its pathophysiological contribution to retinal dysfunction… read more here.
Keywords: retinal pigment; danon disease; pigment epithelium;