A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.
作者信息
Kulczycka H, Rodo M, Czarnowska E, Czlonkowska A, Wehr H, Pronicka E, Wozniewicz B
出版信息
Acta Anthropogenet. 1985;9(1-3):103-8.
PMID:3843743
Abstract
A boy with clinical characteristics of Menkes disease was described. Extremely low serum copper concentration, low ceruloplasmin level and increased copper accumulation in cultured fibroblasts confirmed the diagnosis. Electronmicroscopy of elastic cartilage showed abnormalities of chondrocyte function and a derangement of extracellular substance polymerization.
摘要
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