Lessons from inborn errors of metabolism.
作者信息
Milne M D
出版信息
Proc R Soc Med. 1966 Nov;59(11 Part 1):1157-62. doi: 10.1177/003591576605911P136.
Abstract
摘要
相似文献
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Lessons from inborn errors of metabolism.先天性代谢缺陷的教训。
Proc R Soc Med. 1966 Nov;59(11 Part 1):1157-62. doi: 10.1177/003591576605911P136.
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The prenatal diagnosis of inborn errors of metabolism.先天性代谢缺陷的产前诊断。
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Inborn errors of metabolism: the essentials of clinical diagnosis.先天性代谢缺陷：临床诊断要点
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Cardiac manifestations of inborn errors of metabolism.先天性代谢缺陷的心脏表现。
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引用本文的文献
1
Management of inherited metabolic disease.遗传性代谢疾病的管理
Br Med J. 1972 May 6;2(5809):329-36. doi: 10.1136/bmj.2.5809.329.
本文引用的文献
1
The intestinal absorption defect in cystinuria.胱氨酸尿症中的肠道吸收缺陷。
Gut. 1961 Dec;2(4):323-37. doi: 10.1136/gut.2.4.323.
2
PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA.人类嘧啶代谢。IV. 乳清酸尿症的酶缺陷
J Clin Invest. 1961 Apr;40(4):656-64. doi: 10.1172/JCI104298.
3
Genetic Control of Biochemical Reactions in Neurospora.粗糙脉孢菌中生化反应的遗传控制。
Proc Natl Acad Sci U S A. 1941 Nov 15;27(11):499-506. doi: 10.1073/pnas.27.11.499.
4
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.有机酸尿症、肾脏氨生成减少、眼球积水和智力迟钝；一种临床病症。
AMA Am J Dis Child. 1952 Feb;83(2):164-84. doi: 10.1001/archpedi.1952.02040060030004.
5
Aminoacid metabolism in cystinuria.胱氨酸尿症中的氨基酸代谢
Q J Med. 1951 Jul;20(79):205-19.
6
Further South African cases of porphyrinuria.
S Afr J Clin Sci. 1951 Jun;2(2):117-69.
7
Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.荨麻疹、耳聋与淀粉样变性：一种新的遗传家族性综合征。
Q J Med. 1962 Apr;31:235-48.
8
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.
9
Glucoglycinuria, a new familial syndrome.葡萄糖甘氨酸尿症，一种新的家族性综合征。
J Pediatr. 1962 Sep;61:386-94. doi: 10.1016/s0022-3476(62)80369-2.
10
The pseudocholinesterase variants. Esterase levels and dibucaine numbers in families selected through suxamethonium sensitive individuals.假性胆碱酯酶变异体。通过琥珀酰胆碱敏感个体选择的家庭中的酯酶水平和丁卡因值。
Acta Genet Stat Med. 1960;10:1-16. doi: 10.1159/000151112.
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