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1. 異染性白質ジストロフィーmetachromatic leukodystrophy [show details]
…clinical manifestations, diagnosis, and treatment of metachromatic leukodystrophy. Other lysosomal storage disorders and leukodystrophies are discussed separately. MLD is caused by deficient activity …
2. ペリツェウス・メルツバッハー病pelizaeus merzbacher disease [show details]
…inherited leukodystrophy from a regional center in Utah reported that PMD was the etiology in 7.4 percent, making PMD the second most common diagnosis, behind only metachromatic leukodystrophy . In Japan …
3. 遺伝性疾患に伴う神経障害neuropathies associated with hereditary disorders [show details]
…phenotype, and a peripheral neuropathy occurs in Fabry disease, Krabbe disease, metachromatic leukodystrophy, and Niemann-Pick disease Fabry disease (also called angiokeratoma corporis diffusum, ceramide …
4. 小児における中枢神経系の急性脱髄の鑑別診断differential diagnosis of acute central nervous system demyelination in children [show details]
…demyelination on imaging studies. These include malignancies, mitochondrial disease, and certain leukodystrophies . Large areas of tumefactive demyelination can give rise to concern for possible central nervous …
5. アレキサンダー病alexander disease [show details]
…disease (MIM #203450) is one of a group of neurologic disorders, collectively referred to as leukodystrophies, which predominantly affect the central nervous system white matter. These disorders are caused …