منابع مشابه
Retinopathy in Danon disease.
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 ...
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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...
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IMPORTANCE Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials. OBJECTIVE To determine the longitudinal change in clinical features among individuals with Huntington disease compared with controls. DESIGN, SETTING, AND PARTICIPANTS Prospective, longitudinal cohort study at 44 resea...
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Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midpar...
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Ministry prepared dutifully to administer the service, and Britain obtained health care free at the point of delivery for all-a system which, despite exceeding all original financial estimates, became, in fact, the most cost-efficient in the world. Bevan realised a socialist dream, but Honigsbaum claims that the real ideological roots of National Health provision were the Christian principles o...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2011
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e31820ad795