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中文Metachromatic Leukodystrophy (MLD)
Alias:
Arylsulfatase a Deficiency
Mld
Arsa Deficiency
Cerebral Sclerosis, Diffuse, Metachromatic Form
Pseudoarylsulfatase a Deficiency
Leukodystrophy, Metachromatic
Sulfatide Lipidosis
Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy, Juvenile Type
Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy Variant
Metachromatic Leukoencephalopathy
Cerebroside Sulfatase Deficiency
Sulfatidosis
Leukodystrophy Metachromatic Late Infantile
Cerebroside Sulphatase Deficiency Disease
Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Juvenile
Metachromatic Leukodystrophy, Infant
Deficiency of Cerebroside-Sulfatase
Metachromatic Leukodystrophy, Adult
Arylsulfatase a Deficiency Disease
Leukodystrophy Metachromatic Adult
Leukodystrophy Metachromatic
Scholz Cerebral Sclerosis
Sulfatide Lipoidosis
Greenfield's Disease
Greenfield Disease
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异染性白质营养不良，也称为芳基硫酸酯酶A缺乏症，与异染性白质营养不良，晚期婴儿型和异染性白质营养不良，青少年型有关，症状包括共济失调、癫痫发作和肌肉无力。与异染性白质营养不良相关的基因是ARSA（芳基硫酸酯酶A），其相关通路/超级通路包括代谢和糖基化疾病。在该疾病的背景下提到了环磷酰胺和泼尼松龙。附属组织包括脊髓和骨髓，相关表型为室周白质软化和异常循环酶浓度或活性。
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MALACARDS
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