Inborn errors of metabolism: principles and their applications.
作者信息
Pinksy L
出版信息
Can Med Assoc J. 1972 Mar 18;106(6):677 passim.
Abstract
摘要
相似文献
1
Inborn errors of metabolism: principles and their applications.先天性代谢缺陷：原理及其应用
Can Med Assoc J. 1972 Mar 18;106(6):677 passim.
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本文引用的文献
1
The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism.巯嘌呤（依木兰）对嘌呤代谢临床紊乱中嘌呤合成的影响。
J Clin Invest. 1967 Sep;46(9):1518-29. doi: 10.1172/JCI105643.
2
PROTEIN COMPOSITION OF EARLY AMNIOTIC FLUID AND FETAL SERUM WITH A CASE OF BIS-ALBUMINEMIA.
Am J Obstet Gynecol. 1964 Jun 15;89:488-94. doi: 10.1016/0002-9378(64)90553-8.
3
Further studies on leukocyte phosphorylase in glycogen storage disease.糖原贮积病中白细胞磷酸化酶的进一步研究
Metabolism. 1963 May;12:464-6.
4
Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase.遗传性果糖不耐受症。一种肝脏果糖-1-磷酸裂解醛缩酶的先天性缺陷。
Am J Med. 1963 Feb;34:151-67. doi: 10.1016/0002-9343(63)90050-0.
5
Experimental studies on congenital malformations.先天性畸形的实验研究
J Chronic Dis. 1959 Aug;10(2):111-30. doi: 10.1016/0021-9681(59)90026-8.
6
Enzyme entrapment in liposomes.酶包封于脂质体中。
FEBS Lett. 1971 Apr;14(2):95-99. doi: 10.1016/0014-5793(71)80109-6.
7
Genetic aspects of tyrosinemia in the Chicoutimi region.希库蒂米地区酪氨酸血症的遗传学方面
Can Med Assoc J. 1967 Oct 28;97(18):1099-101.
8
Familial intrauterine convulsions in pyridoxine dependency.吡哆醇依赖症中的家族性宫内惊厥
Arch Dis Child. 1967 Apr;42(222):201-7. doi: 10.1136/adc.42.222.201.
9
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.法布里病的酶缺陷。神经酰胺三己糖苷酶缺乏症。
N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101.
10
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency.伴有赖氨酸-酮戊二酸还原酶功能不全的家族性高赖氨酸血症
J Clin Invest. 1969 Aug;48(8):1447-52. doi: 10.1172/JCI106110.
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