Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

作者信息

Imbard Apolline, Alberti Corinne, Armoogum-Boizeau Priscilla, Ottolenghi Chris, Josserand Emilie, Rigal Odile, Benoist Jean-François

出版信息

Clin Chem Lab Med. 2012 Dec;50(12):2231-3. doi: 10.1515/cclm-2012-0266.

DOI:10.1515/cclm-2012-0266

PMID:23093084

Abstract

摘要

相似文献

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

Clin Chem Lab Med. 2012 Dec;50(12):2231-3. doi: 10.1515/cclm-2012-0266.

Urinary phosphoethanolamine: normal values by age.

Clin Chem. 1980 Nov;26(12):1757-8.

The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia.

Am J Med. 1978 Jan;64(1):133-8. doi: 10.1016/0002-9343(78)90189-4.

[Hypophosphatasia].

Tidsskr Nor Laegeforen. 1974 Apr;94(10):641-3.

Neonatal hypophosphatasia and seizures. A case report.新生儿低磷酸酯酶症与癫痫发作。病例报告。

Minerva Pediatr. 2005 Oct;57(5):319-23.

[Hypophosphatasia with normal urinary phosphoethanolamine in a 22-month-old girl].[一名22个月大女童患尿磷酸乙醇胺正常的低磷酸酯酶症]

Pediatr Pol. 1980 Jun;55(6):791-6.

[Congenital hypophosphatasia].[先天性低磷酸酯酶症]

Monatsschr Kinderheilkd. 1984 Jul;132(7):512-22.

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.婴儿型低磷酸酯酶症中的高磷血症：对携带者诊断和筛查的意义。

Am J Hum Genet. 1990 Feb;46(2):280-5.

Retrospective study of children with hypophosphatasia with reference to dental changes.关于低磷酸酯酶症患儿牙齿变化的回顾性研究。

Scand J Dent Res. 1991 Oct;99(5):357-64. doi: 10.1111/j.1600-0722.1991.tb01041.x.

Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease.低磷酸酯酶症：对一个荷兰家族的生化筛查及无机焦磷酸尿排泄是该疾病标志物的证据

Clin Chem. 1988 Sep;34(9):1937-41.

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A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the gene.一例由该基因中一个新的51个碱基对的框内杂合缺失导致的儿童低磷酸酯酶症的独特病例。

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Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.低磷酸酯酶症：生物学与临床方面及治疗途径

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