نتایج جستجو برای: danon
تعداد نتایج: 185 فیلتر نتایج به سال:
OBJECTIVE To evaluate visual function in 2 boys and their maternal aunt affected with Danon disease due to a mutation in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene. METHODS Linkage analysis using microsatellite markers from the X chromosome was done in family members from the paternal side. Visual acuity testing, fundus analysis, fluorescence angiography, and full-field ...
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated mem...
Correspondence to: Dr Perry Elliott, The Heart Hospital, 16–18 Westmoreland Street, London, W1G 8PH, UK; [email protected] __________________________ L ysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. The predominant inheritance pattern is autosomal...
To report a patient with Danon retinopathy with cystoid macular edema treated with topical dorzolamide 2% eye drops and oral acetazolamide. A 37-year-old Caucasian man with Danon disease treated with topical and oral carbonic anhydrase inhibitors participated in the study. Examinations performed before and during treatment included visual acuity (VA), spectral-domain optical coherence tomograph...
Pierre Pétriacq, Linda de Bont, Lucie Genestout, Jingfang Hao, Constance Laureau, Igor Florez-Sarasa, Touhami Rzigui, Guillaume Queval, Françoise Gilard, Caroline Mauve, Florence Guérard, Marlène Lamothe-Sibold, Jessica Marion, Chantal Fresneau, Spencer Brown, Antoine Danon, Anja Krieger-Liszkay, Richard Berthomé, Miquel Ribas-Carbo, Guillaume Tcherkez, Gabriel Cornic, Bernard Pineau, Bertrand ...
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