Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.
Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.
复制标题
假性低磷酸酯酶症患者血清 5-磷酸吡哆醛增加。
DOI：
10.1056/nejm198604103141515
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
M. Whyte
中科院分区：
文献类型：
--
作者：
D. Cole;S. Salisbury;R. Stinson;S. Coburn;L. Ryan;M. Whyte
致编辑：假性低磷酸酯酶症是一种罕见的代谢性骨病，17 年前 Scriver 和 Cameron 在《杂志》上首次在一名儿童中描述了这种疾病。 1 患者具有典型的低磷酸酯酶症的典型表现，包括佝偻病和磷酸乙醇胺尿症的临床和影像学特征；然而，循环碱性磷酸酶活性（根据临床测定测量）正常。斯克里弗和卡梅伦认为，这种疾病是由于酶对内源性底物的亲和力选择性缺陷造成的。该患者现年22岁，是一名大学生。她几乎无牙，身材略有下降（148厘米）……
To the Editor: Pseudohypophosphatasia is a rare metabolic bone disease that was first described in one child 17 years ago by Scriver and Cameron in the Journal. 1 The patient had the typical findings of classic hypophosphatasia, including clinical and radiographic features of rickets and phosphoethanolaminuria; however, the circulating alkaline phosphatase activity (as measured in clinical assays) was normal. Scriver and Cameron suggested that the disorder resulted from a selective defect in the affinity of the enzyme for endogenous substrates. This patient is now a 22-year-old college student. She is nearly edentulous and has a slightly reduced stature (148 cm)…