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假性甲状旁腺功能减退症。家族内的可变表现。

Pseudohypoparathyroidism. Variable manifestations within a family.

作者信息

Williams A J, Wilkinson J L, Taylor W H

出版信息

Arch Dis Child. 1977 Oct;52(10):798-800. doi: 10.1136/adc.52.10.798.

DOI:10.1136/adc.52.10.798
PMID:931429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1544798/
Abstract

A wide variety of clinical and biochemical manifestations have been reported in association with pseudohypoparathyroidism and associated disorders. This is illustrated by a family study in which the affected members show widely differing characteristics.

摘要

与假性甲状旁腺功能减退症及相关病症相关的各种临床和生化表现已有报道。一项家族研究表明了这一点，在该研究中，受影响的成员表现出差异很大的特征。

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Pseudohypoparathyroidism. Variable manifestations within a family.假性甲状旁腺功能减退症。家族内的可变表现。
Arch Dis Child. 1977 Oct;52(10):798-800. doi: 10.1136/adc.52.10.798.
2
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Case study of a family of pseudohypoparathyroidism and pseudopseudohypoparathyroidism.一例假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症家族的病例研究
J Assoc Physicians India. 1986 Aug;34(8):600-2.
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引用本文的文献

1
Imprinting in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中的印记现象。
J Med Genet. 1993 Feb;30(2):101-3. doi: 10.1136/jmg.30.2.101.

本文引用的文献

1
Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.奥尔布赖特遗传性骨营养不良，包括假性甲状旁腺功能减退和假假性甲状旁腺功能减退。报告两例代表连续两代出现的完整综合征的病例。
Ann Intern Med. 1962 Feb;56:315-42. doi: 10.7326/0003-4819-56-2-315.
2
Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa.假性甲状旁腺功能减退症伴继发性甲状旁腺功能亢进和纤维性骨炎。
J Clin Endocrinol Metab. 1962 Jan;22:59-70. doi: 10.1210/jcem-22-1-59.
3
Pseudohypoparathyroidism and pregnancy. Is pseudo-pseudohypoparathyroidism a mild form of pseudohypoparathyroidism?假性甲状旁腺功能减退症与妊娠。假性假性甲状旁腺功能减退症是假性甲状旁腺功能减退症的一种轻度形式吗？
J Pediatr. 1960 Mar;56:383-6. doi: 10.1016/s0022-3476(60)80190-4.
4
Pseudo-pseudohypoparathyroidism.假假性甲状旁腺功能减退症
Trans Assoc Am Physicians. 1952;65:337-50.
5
Pseudoidiopathic hypoparathyroidism. Hypoparathyroidism with ineffective parathyroid hormone.假性特发性甲状旁腺功能减退症。甲状旁腺激素无效的甲状旁腺功能减退症。
Am J Med. 1973 Nov;55(5):677-86. doi: 10.1016/0002-9343(73)90191-5.
6
Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone.假性甲状旁腺功能减退症：对甲状旁腺激素反应时3',5'-AMP排泄缺陷。
J Clin Invest. 1969 Oct;48(10):1832-44. doi: 10.1172/JCI106149.
7
The spectrum of the hypoparathyroid states: A classification based on physiologic principles.甲状旁腺功能减退状态的谱系：基于生理原理的分类。
Medicine (Baltimore). 1976 Mar;55(2):105-19. doi: 10.1097/00005792-197603000-00001.
8
Pseudohypoparathyroidism: a difficult diagnosis in early childhood.
Acta Paediatr Scand. 1976 Jul;65(4):487-93. doi: 10.1111/j.1651-2227.1976.tb04918.x.
9
Pseudohypoparathyroidism with normal serum calcium level.血清钙水平正常的假性甲状旁腺功能减退症。
Am J Dis Child. 1975 Sep;129(9):1092-5. doi: 10.1001/archpedi.1975.02120460072017.