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The European Leukodystrophy Association also supports research into leukodystrophy. As of 2020, more than 387 research projects have been funded. Each year, ELA invites the international scientific community to submit research projects in the field of genetic leukodystrophies, the cerebral white matter in premature infants, and of myelin repair.
Jérôme Jean Louis Marie Lejeune (French pronunciation: [ʒeʁom ʒɑ̃ lwi maʁi ləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition ...
Charles Richard Drew (June 3, 1904 – April 1, 1950) was an American surgeon and medical researcher. He researched in the field of blood transfusions, developing improved techniques for blood storage, and applied his expert knowledge to developing large-scale blood banks early in World War II.
Adult-onset autosomal dominant leukodystrophy (ADLD) is a neurological disorder that is associated with widespread myelin loss in the central nervous system. Fu's lab traced the phenotype back to individuals with an extra copy of nuclear laminar protein lamin B1 making ADLD one of the diseases named “laminopathies”.
Karl Landsteiner ForMemRS [2] (German: [kaʁl ˈlantˌʃtaɪnɐ]; 14 June 1868 – 26 June 1943 [3]) was an Austrian-American biologist, physician, and immunologist. [4] He emigrated with his family to New York in 1923 at the age of 55 for professional opportunities, working for the Rockefeller Institute.
The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40,000 to 1 in 160,000 individuals worldwide. [13] There is a much higher incidence in certain genetically isolated populations, such as 1 in 75 in Habbanites (a small group of Jews who immigrated to Israel from southern Arabia), 1 in 2,500 in the western portion of the ...
Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
Adrenoleukodystrophy; Other names: X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease: White matter, with reduced volume and increased signal intensity.