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1
Genetic aspects of nutritional rickets.营养性佝偻病的遗传学方面
Arch Dis Child. 1976 Feb;51(2):83-90. doi: 10.1136/adc.51.2.83.
2
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引用本文的文献

1
Vitamin d deficiency-a clinical spectrum: is there a symptomatic nonosteomalacic state?维生素 D 缺乏症——一种临床谱:是否存在有症状而非骨软化症状态?
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25-Hydroxycholecalciferol serum levels in breast-fed infants.母乳喂养婴儿的血清25-羟胆钙化醇水平
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Editorial: Metabolic bone disease in Asians.社论:亚洲人的代谢性骨病
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本文引用的文献

1
A CONVENIENT METHOD FOR DETERMINING SERUM AND BILE PHOSPHATASE ACTIVITY.一种测定血清和胆汁磷酸酶活性的简便方法。
Can Med Assoc J. 1934 Oct;31(4):376-81.
2
GENETIC ORIGIN OF SOME SEX DIFFERENCES AMONG HUMAN BEINGS.
Pediatrics. 1965 May;35:798-812.
3
Observations on sex differences in human biology.关于人类生物学中性别差异的观察。
Bull Johns Hopkins Hosp. 1962 Mar;110:134-44.
4
Determination of alpha-amino acid nitrogen in urine.尿液中α-氨基酸氮的测定
Proc Soc Exp Biol Med. 1957 Aug-Sep;95(4):808-13. doi: 10.3181/00379727-95-23370.
5
Amino-aciduria and rickets.氨基酸尿症与佝偻病
Helv Paediatr Acta. 1955 May;10(1-2):245-57.
6
Amino-aciduria in rachitic children.佝偻病患儿的氨基酸尿症。
Lancet. 1953 Aug 29;265(6783):428-31. doi: 10.1016/s0140-6736(53)90204-9.
7
Rickets and amino-aciduria.佝偻病与氨基酸尿症。
Lancet. 1952 Nov 22;2(6743):1015-7. doi: 10.1016/s0140-6736(52)91187-2.
8
Vitamin D deficiency rickets in Greece.希腊的维生素D缺乏性佝偻病
J Pediatr. 1968 Aug;73(2):195-202. doi: 10.1016/s0022-3476(68)80068-x.

营养性佝偻病的遗传学方面

Genetic aspects of nutritional rickets.

作者信息

Doxiadis S, Angelis C, Karatzas P, Vrettos C, Lapatsanis P

出版信息

Arch Dis Child. 1976 Feb;51(2):83-90. doi: 10.1136/adc.51.2.83.

DOI:10.1136/adc.51.2.83
PMID:1259463
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1545889/
Abstract

Amino acid excretion was investigated in 21 rachitic infants and in 22 of their parents. There was (a) increased alpha-amino acid excretion in one-third of the infants a long time after the rickets had healed, (b) an abnormally high excretion of alpha-amino nitrogen and of phosphorus in many of the parents (c) an abnormal pattern of amino acid excretion in all 9 infants tested, and (d) a good correlation between the excretion of individual amino acids by an infant and by its parents. Our findings suggest that in at least some cases of nutritional rickets there is a genetic element which may manifest itself only under adverse environmental conditions.

摘要

对21名患佝偻病的婴儿及其22名父母的氨基酸排泄情况进行了研究。结果发现:(a)三分之一的婴儿在佝偻病治愈很长时间后,α-氨基酸排泄量增加;(b)许多父母的α-氨基氮和磷排泄异常高;(c)所有9名接受测试的婴儿氨基酸排泄模式异常;(d)婴儿及其父母个体氨基酸排泄之间存在良好的相关性。我们的研究结果表明,至少在某些营养性佝偻病病例中存在遗传因素,该因素可能仅在不利的环境条件下才会显现出来。