Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features
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- 作者：Bo Wu ; Yan Jiang ; Ou Wang ; Mei Li ; Xiao-ping Xing ; Wei-bo Xia ; xiaweibo@medmail.com.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：CMD ; Craniometaphyseal dysplasia ; ANKH ; ANKH inorganic pyrophosphate transport ; regulator ; PPi ; Pyrophosphatase ; GJA1 ; Gap junction protein ; α 1 ; PUMCH ; Peking Union Medical College Hospital ; β-CTX ; β C-terminal telopeptide of type I collagen ; FGF23 ; Fibroblast growth factor 23 ; RANKL ; Receptor activator for nuclear factor-κ B ligand ; OPG ; Osteoprotegerin ; BLAST ; Basic local alignment search tool ; ENPP1 ; Ectonucleotide pyrophosphatase/phosphodiesterase 1
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 May 2016
- 年：2016
- 卷：456
- 期：Complete
- 页码：122-127
- 全文大小：775 K
文摘
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An infrequent report on biochemical change in CMD patient
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Revealed that rickets-like features as uncommon characteristics in CMD patients
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First description of CMD patient that calcium and calcitriol supplementation could alleviated these obvious biochemical abnormalities.
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Firstly illustrated that early osteoclast differentiation factor was excited, but activity of osteoclast was still inert in human case of CMD.