先天性原发性低镁血症，一种先天性代谢紊乱疾病？ - Suppr

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超能文献

Congenital primary hypomagnesemia, an inborn error of metabolism?

作者信息

Skyberg D, Stromme J H, Nesbakken R, Harnaes K

出版信息

Acta Paediatr Scand. 1967:Suppl 177:26-7. doi: 10.1111/j.1651-2227.1967.tb05195.x.

DOI:10.1111/j.1651-2227.1967.tb05195.x

PMID:5586087

Abstract

摘要

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Congenital primary hypomagnesemia, an inborn error of metabolism?先天性原发性低镁血症，一种先天性代谢紊乱疾病？

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[Inborn errors of metabolism (as seen by the pediatrist].[儿科医生视角下的先天性代谢缺陷]

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Parathyroid function during chronic magnesium deficiency.慢性镁缺乏时的甲状旁腺功能

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引用本文的文献

Mice defective in Trpm6 show embryonic mortality and neural tube defects.Trpm6 缺陷型小鼠表现出胚胎致死和神经管缺陷。

Hum Mol Genet. 2009 Nov 15;18(22):4367-75. doi: 10.1093/hmg/ddp392. Epub 2009 Aug 18.

Clinical presentation and outcome in primary familial hypomagnesaemia.原发性家族性低镁血症的临床表现及预后

Arch Dis Child. 1998 Feb;78(2):127-30. doi: 10.1136/adc.78.2.127.

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.一名患有平衡X;9易位的女性出现继发性低钙血症伴低镁血症：Xp22染色体断点的定位

Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829.

Tetany due to hypomagnesaemia with secondary hypocalcaemia.低镁血症伴继发性低钙血症所致手足搐搦

Arch Dis Child. 1970 Apr;45(240):254-8. doi: 10.1136/adc.45.240.254.

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