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家族性侏儒症与高血浆免疫反应性人生长激素综合征

The syndrome of familial dwarfism and high plasma immunoreactive human growth hormone.

作者信息

Laron Z

出版信息

Birth Defects Orig Artic Ser. 1974;10(4):231-8.

PMID:4470894
Abstract

In 1966 we described a syndrome of familial dwarfism which was indistinguishable both clinically and in many of the laboratory findings from pituitary dwarfism, but in which there were abnormally high plasma concentrations of immunoreactive human growth hormone (IR-HGH). The possibility was raised that in these cases the circulating growth hormone is biologically inactive. Additional patients were described two years later, and in recent years we have reported additional clinical and laboratory findings in these and newly-discovered patients, all of whom were of Jewish origin. Subsequently, this syndrome was detected in non-Jewish populations.

摘要

1966年,我们描述了一种家族性侏儒症综合征,该综合征在临床和许多实验室检查结果上与垂体性侏儒症无法区分,但患者血浆中免疫反应性人生长激素(IR-HGH)浓度异常升高。由此推测,在这些病例中,循环中的生长激素可能没有生物活性。两年后又发现了更多患者,近年来我们报告了这些患者以及新发现患者的更多临床和实验室检查结果,他们均为犹太裔。随后,在非犹太人群中也发现了这种综合征。

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The syndrome of familial dwarfism and high plasma immunoreactive human growth hormone.家族性侏儒症与高血浆免疫反应性人生长激素综合征
Birth Defects Orig Artic Ser. 1974;10(4):231-8.
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Syndrome of familial dwarfism and high plasma immunoreactive growth hormone.家族性侏儒症与高血浆免疫反应性生长激素综合征
Isr J Med Sci. 1974 Oct;10(10):1247-53.
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Immunoreactive properties of the plasma hGH from patients with the syndrome of familial dwarfism and high plasma IR-hGH.家族性侏儒症综合征及高血浆免疫反应性生长激素(IR-hGH)患者血浆hGH的免疫反应特性
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[Severe dwarfism with high plasma hGH levels and no somatomedin acitvity: Laron's syndrome (author's transl)].严重侏儒症伴高血浆人生长激素水平且无生长调节素活性:拉龙综合征(作者译)
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Familial prenatal dwarfism with elevated serum immuno-reactive growth hormone levels and end-organ unresponsiveness.伴有血清免疫反应性生长激素水平升高和终末器官无反应性的家族性产前侏儒症。
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Glucose tolerance and insulin secretion in parents and children with familial dwarfism and high plasma immunoreactive growth hormone (IR-HGH) and familial isolated growth hormone deficiency.患有家族性侏儒症且血浆免疫反应性生长激素(IR-HGH)升高以及家族性孤立性生长激素缺乏症的父母和子女的葡萄糖耐量和胰岛素分泌
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[Nanism with high values of GH and no generation of somatomedin after hGH (Laron's syndrome). Clinico-biochemical study of 8 cases].[生长激素水平高但生长激素释放激素(hGH)后未产生生长调节素的侏儒症(拉伦综合征)。8例临床生化研究]
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Familial dwarfism with high IR-GH: report of two affected sibs with genetic and epidemiologic considerations.伴有高胰岛素抵抗性生长激素的家族性侏儒症:两例患病同胞的报告及遗传和流行病学考量
Hum Genet. 1981;59(4):367-72. doi: 10.1007/BF00295474.

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