The genetic mechanism of galactosaemia.
作者信息
HUGH-JONES K, NEWCOMB A L, HSIA D Y
出版信息
Arch Dis Child. 1960 Dec;35(184):521-8. doi: 10.1136/adc.35.184.521.
Abstract
摘要
相似文献
1
The genetic mechanism of galactosaemia.半乳糖血症的遗传机制。
Arch Dis Child. 1960 Dec;35(184):521-8. doi: 10.1136/adc.35.184.521.
2
Galactosaemia (galactose disease).半乳糖血症（半乳糖病）。
Acta Paediatr (Stockh). 1954 Sep;43(5):467-77. doi: 10.1111/j.1651-2227.1954.tb04054.x.
3
The value of galactose phosphate determinations in the treatment of galactosaemia.磷酸半乳糖测定在半乳糖血症治疗中的价值。
Arch Dis Child. 1960 Oct;35(183):428-32. doi: 10.1136/adc.35.183.428.
4
CONGENITAL galactosaemia.先天性半乳糖血症
Lancet. 1955 Jul 9;269(6880):77-8.
5
A study of the genetics of galactosaemia.一项关于半乳糖血症遗传学的研究。
Ann Hum Genet. 1961 Dec;25:179-88. doi: 10.1111/j.1469-1809.1962.tb01518.x.
6
Galactosaemia.半乳糖血症
Br Med Bull. 1961 Sep;17:213-6. doi: 10.1093/oxfordjournals.bmb.a069911.
7
Amino-aciduria in galactosaemia.半乳糖血症中的氨基酸尿症。
Br Med J. 1952 Jan 26;1(4751):194-5. doi: 10.1136/bmj.1.4751.194.
8
Galactosaemia.半乳糖血症
Curr Med Drugs. 1961 Nov;2:1-6.
9
Galactosaemia.半乳糖血症
Bibl Paediatr. 1958(66):359-77.
10
Some disturbances of erythrocyte metabolism in galactosaemia.半乳糖血症中红细胞代谢的一些紊乱。
Biochem J. 1956 Jan;62(1):34-40. doi: 10.1042/bj0620034.
引用本文的文献
1
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.大规模平行测序揭示了越南孕妇葡萄糖-6-磷酸脱氢酶缺乏症、苯丙酮尿症和半乳糖血症的疾病相关变异谱。
Mol Genet Genomic Med. 2022 Jul;10(7):e1959. doi: 10.1002/mgg3.1959. Epub 2022 May 3.
2
ERYTHROCYTIC GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE LEVELS IN HEPATIC CIRRHOSIS.肝硬化患者红细胞中半乳糖-1-磷酸尿苷酰转移酶水平
Gut. 1964 Apr;5(2):170-2. doi: 10.1136/gut.5.2.170.
3
THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.人红细胞中半乳糖激酶和1-磷酸半乳糖尿苷酰转移酶活性的测定。一种针对半乳糖血症缺陷杂合子携带者的推测性检测。
J Exp Med. 1963 Sep 1;118(3):359-70. doi: 10.1084/jem.118.3.359.
4
TREATABLE MENTAL SUBNORMALITY.可治疗的精神发育迟滞
Indian J Pediatr. 1963 Oct;30:339-41 CONCL. doi: 10.1007/BF02748315.
5
Galactosemia.半乳糖血症
Indian J Pediatr. 1963 Mar;30:87-90. doi: 10.1007/BF02748182.
6
[Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations].[半乳糖血症中毛细血管血半乳糖-1-磷酸尿苷酰转移酶的测定。在家族检查中的应用]
Klin Wochenschr. 1965 Oct 15;43(20):1074-81. doi: 10.1007/BF01734181.
7
UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.培养的人成纤维细胞中的UDP-葡萄糖：α-D-半乳糖-1-磷酸尿苷酰转移酶活性
Biochem Genet. 1967 Jun;1(1):11-24. doi: 10.1007/BF00487732.
8
[Polyphosphate nucleosides of crystallin. Their development during differentiation, aging and galactose overload].[晶状体的多磷酸盐核苷。它们在分化、衰老和半乳糖超载过程中的发展]
Doc Ophthalmol. 1970 Dec 21;29(1):1-126. doi: 10.1007/BF02346234.
9
[Relation between galactose and the crystalline lens].[半乳糖与晶状体之间的关系]
Doc Ophthalmol. 1969;26:334-48. doi: 10.1007/BF00943995.
10
Observations on galactosaemic families.
Indian J Pediatr. 1965 Dec;32(215):379-94. doi: 10.1007/BF02813150.
本文引用的文献
1
A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA.一种检测半乳糖血症携带者的方法。
Proc Natl Acad Sci U S A. 1959 Mar;45(3):328-31. doi: 10.1073/pnas.45.3.328.
2
Galactosaemia.半乳糖血症
Arch Dis Child. 1952 Aug;27(134):341-7. doi: 10.1136/adc.27.134.341.
3
Disorders of glycogen metabolism; with special reference to glycogen storage disease and galactosemia.糖原代谢紊乱；特别提及糖原贮积病和半乳糖血症。
Pediatrics. 1952 Mar;9(3):263-79.
4
[Familial fatty degeneration of the liver associated with galactosemia].[与半乳糖血症相关的家族性肝脂肪变性]
Maandschr Kindergeneeskd. 1951 Oct;19(8-9):304-9.
5
Galactose cataractogenesis; review of literature and case report.半乳糖性白内障形成；文献综述与病例报告
Am J Ophthalmol. 1952 Jan;35(1):69-75.
6
Galactosemia cataract; report of a case.半乳糖血症性白内障；一例报告。
Am J Ophthalmol. 1951 Sep;34(9):1271-4.
7
Human galactosemia cataract; report of a case.人类半乳糖血症性白内障；一例报告。
Am J Ophthalmol. 1951 Sep;34(9):1268-70. doi: 10.1016/0002-9394(51)91861-2.
8
Chronic galactosemia.慢性半乳糖血症
Am Pract Dig Treat. 1951 Jul;2(7):602-8.
9
CLINICOPATHOLOGICAL reports; from the case records of the Medical College of Virginia and the University of Virginia hospitals.临床病理报告；来自弗吉尼亚医学院和弗吉尼亚大学医院的病例记录。
Va Med Mon (1918). 1951 Jul;78(7):368-75.
Zotero 插件