Hypophosphatasia: The Unusual Presentation.
作者信息
Sergi Consolato M.
机构信息
Stollery Children’s Hospital and Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada
出版信息
J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):450-451. doi: 10.4274/jcrpe.galenos.2020.2020.0094. Epub 2020 Jun 2.
Abstract
摘要
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本文引用的文献
1
Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.低磷酸酯酶症：一种与非典型新生儿表现相关的新型突变。
J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):104-108. doi: 10.4274/jcrpe.galenos.2019.2018.0263. Epub 2019 Apr 1.
2
Transient band keratopathy associated with ocular inflammation and systemic hypercalcemia.与眼部炎症和全身性高钙血症相关的暂时性带状角膜病变。
Clin Ophthalmol. 2008 Sep;2(3):645-7. doi: 10.2147/opth.s2317.
3
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.由组织非特异性碱性磷酸酶基因的两个新的错义突变（c.677T>C，p.M226T；c.1112C>T，p.T371I）引起的婴儿低磷酸酯酶症，以吡哆醇反应性癫痫发作作为首发症状
Bone. 2007 Jun;40(6):1655-61. doi: 10.1016/j.bone.2007.01.020. Epub 2007 Feb 14.
4
BAND KERATOPATHY AND CONJUNCTIVAL CALCIFICATION IN HYPOPHOSPHATASIA.
Arch Ophthalmol. 1964 Apr;71:497-9. doi: 10.1001/archopht.1964.00970010513011.
5
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.围产期低磷酸酯酶症：对一个家系进行的放射学、病理学及分子生物学研究，该家系的组织非特异性碱性磷酸酶（TNSALP）基因存在剪接突变（648+1A）和一个新的错义突变（N400S）
Am J Med Genet. 2001 Oct 15;103(3):235-40.
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