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• W2023456872 abstract "We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested." @default.
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• W2023456872 date "2006-12-11" @default.
• W2023456872 modified "2023-09-25" @default.
• W2023456872 title "Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia" @default.
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• W2023456872 doi "https://doi.org/10.1212/01.wnl.0000247666.28904.35" @default.
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