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Homocystinuria
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Homocystinuria
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Characteristic MR Imaging Changes in Severe Hypermethioninemic ... Nov 11, 2005
...who developed clinical signs or symptoms of cerebral edema, thus prompting neuroimaging studies: Patient 1. A 10-year-old girl with homocystinuria due to CBS ...
- Am J Neuroradiology (subscription)
CBS domains: structure, function, and pathology in human proteins Nov 8, 2005
Several human hereditary diseases (homocystinuria, retinitis pigmentosa, hypertrophic cardiomyopathy, myotonia congenital, etc.) can be caused by mutations in ...
- AJP - Cell Physiology (subscription)
Spotlight is on vitamin B group Sep 26, 2005
Victims of the rare genetic disorder known as homocystinuria usually die by age 20 from heart attack or stroke, which suggests a cause and effect relationship. ...
- El Paso Times,
MCGuinty government increasing protection for newborns Sep 7, 2005
These tests include: - Maple syrup disease (MSUD) - Homocystinuria (due to CBS deficiency) (HCY) - Citrullinemia (CIT) - Argininosuccinic acidemia (ASA ...
- Canada NewsWire (press release),
State to screen babies for genetic diseasesJul 29, 2005
They can have seizures, extreme sleepiness or coma and even die without treatment. Homocystinuria: Babies have problems breaking down protein. ...
- OCRegister (subscription)
PerkinElmer rides infant-testing waveJul 25, 2005
Some are quite rare, like homocystinuria, the lack of an enzyme needed for normal development of the brain, eyes, and skeleton. ...
- Boston Globe
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Homocystinuria
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