leukodystrophy वाक्य
उदाहरण वाक्य
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- Globoid cell leukodystrophy ( Krabbe disease ) is a severe, autosomal recessive disorder that results from deficiency of galactocerebrosidase ( GALC ) activity.
- Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
- Eds : Photo is of a hospice worker and a terminally ill girl, Sholanda Benson, who has metachromatic leukodystrophy, a fatal genetic disease.
- The Global Leukodystrophy Initiative was formed in 2013 to bring together clinicians, researchers and advocacy groups to focus and improve both clinical care and research.
- The main members of this group are Niemann Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay Sachs disease and metachromatic leukodystrophy.
- Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, RVCL ( Retinal Vasculopathy with Cerebral Leukodystrophy ), and Cree encephalitis.
- With international collaboration and help from his colleagues, he discovered the entity of Megalencephalic Leukodystrophy with a specific gene defect prevalent in the Agarwal community.
- Around the time LeSara was diagnosed with leukodystrophy, Shalonda, a bright, attentive 10-year-old, began having trouble writing and adding.
- Or contact the United Leukodystrophy Foundation, 2304 Highland Drive, Sycamore, Ill . 60178 ( 800-728-5483 or 815-895-3211 ).
- Then, when his symptoms pointed to something else, his condition was diagnosed a month later as the very rare neurological ailment leukodystrophy called Krabbe's Disease.
- While the more specific underlying causes of leukodystrophy are dependent upon the type, there are, however, common pathophysiological patterns that can be seen amongst all types.
- They further investigated the role of steroid sulfatases in metachromatic leukodystrophy and multiple sulfatase deficiency, and they identified acid ceramidase as the enzyme deficient in Farber s disease.
- Jill Kelly and her husband, NFL quarterback Jim Kelly, founded Hunter's Hope after their son Hunter ( 1997-2005 ) was diagnosed with infantile Krabbe leukodystrophy.
- The specific name for the form of leukodystrophy Kelly's son has is Krabbe's, which affects white enzymes in the part of the brain that controls motor skills.
- Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
- He travelled a distance 4752 km, raising $ 130, 000 for the Australian Lions Children s Mobility Foundation ( ALCMF ) and the Australian Leukodystrophy Support Group Inc ( ALDS ).
- "' Metazym "'is an experimental recombinant enzyme that was studied in patients with late infantile metachromatic leukodystrophy, but found to be ineffective under the conditions of that trial.
- The Foundation's beginnings were inspired by Dr . Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset Metachromatic leukodystrophy.
- The former Buffalo Bills quarterback, who now is working as an anaylst for NBC, said he and his wife learned last month that Hunter James has from a leukodystrophy called Krabbe's Disease.
- An abnormal metabolism or change in the expression of sulfatide has also been associated with various pathologies, including neuropathologies, such as metachromatic leukodystrophy, Alzheimer's disease, and Parkinson's Disease.
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