Diagnosis of Fucosidosis through Cutaneous Manifestations

来源 :儿科学期刊(英文) | 被引量 : 0次 | 上传用户:lihai3120
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Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who wa
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