科姆罗尔讲座。当今的半乳糖血症：谜团与挑战。 - Suppr

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超能文献

Komrower Lecture. Galactosaemia today: the enigma and the challenge.

作者信息

Segal S

机构信息

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.

出版信息

J Inherit Metab Dis. 1998 Aug;21(5):455-71. doi: 10.1023/a:1005402618384.

DOI:10.1023/a:1005402618384

PMID:9728327

Abstract

摘要

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Komrower Lecture. Galactosaemia today: the enigma and the challenge.科姆罗尔讲座。当今的半乳糖血症：谜团与挑战。

J Inherit Metab Dis. 1998 Aug;21(5):455-71. doi: 10.1023/a:1005402618384.

[Galactosemia].[半乳糖血症]

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):647-51.

Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.半乳糖代谢紊乱的罕见病例：每位患者鉴定出两个以上突变

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Mol Genet Metab. 2004 Mar;81(3):253-4; author reply 255-7. doi: 10.1016/j.ymgme.2003.12.002.

The molecular basis of transferase galactosaemia in South African negroids.南非黑人中转移酶半乳糖血症的分子基础。

J Inherit Metab Dis. 1999 Feb;22(1):37-42. doi: 10.1023/a:1005491014280.

Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.早老性白内障与1-磷酸半乳糖尿苷酰转移酶基因突变的关联。

Natl Med J India. 2017 Mar-Apr;30(2):73-75.

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

J Inherit Metab Dis. 1999 May;22(3):327-9. doi: 10.1023/a:1005516523196.

Galactosaemia and the problem of galactose toxicity.

Biochem Soc Trans. 1975;3(2):234-8. doi: 10.1042/bst0030234.

Current controversies about galactosemia.

Clin Biochem. 1993 Apr;26(2):69-74. doi: 10.1016/0009-9120(93)90031-z.

Molecular basis of disorders of human galactose metabolism: past, present, and future.人类半乳糖代谢紊乱的分子基础：过去、现在与未来

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引用本文的文献

GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.GALT蛋白质数据库，一个用于管理和分析半乳糖血症相关蛋白质及其突变体结构特征的生物信息学资源。

Genomics Proteomics Bioinformatics. 2009 Jun;7(1-2):71-6. doi: 10.1016/S1672-0229(08)60035-2.

Correlates of language impairment in children with galactosaemia.半乳糖血症患儿语言障碍的相关因素

J Inherit Metab Dis. 2008 Aug;31(4):524-32. doi: 10.1007/s10545-008-0877-y. Epub 2008 Jul 12.

FDG-PET findings in patients with galactosaemia.半乳糖血症患者的氟代脱氧葡萄糖正电子发射断层扫描（FDG-PET）检查结果

J Inherit Metab Dis. 2008 Aug;31(4):533-9. doi: 10.1007/s10545-008-0806-0. Epub 2008 May 20.

Classical galactosaemia revisited.经典型半乳糖血症再探讨。

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Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.半乳糖血症体外培养乳鼠脑内乙酰胆碱酯酶活性的区域分布

Metab Brain Dis. 2005 Sep;20(3):227-36. doi: 10.1007/s11011-005-7210-3.

The impact of galactosaemia on quality of life--a pilot study.半乳糖血症对生活质量的影响——一项初步研究。

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Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.1-磷酸半乳糖尿苷转移酶缺陷型淋巴母细胞对半乳糖的氧化作用。

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Molecular characterization of Polish patients with classical galactosaemia.

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本文引用的文献

Galactonic Acid in galactosemia: identification in the urine.半乳糖血症中的半乳糖酸：尿中的鉴定。

Science. 1972 May 12;176(4035):683-4. doi: 10.1126/science.176.4035.683.

[The mechanism of the formation of seminal fructose and fetal fructose].[精液果糖和胎儿果糖的形成机制]

Biochim Biophys Acta. 1960 Jan 1;37:127-38. doi: 10.1016/0006-3002(60)90086-x.

A study of the genetics of galactosaemia.半乳糖血症的遗传学研究。

Arch Dis Child. 1955 Apr;30(150):155-9. doi: 10.1136/adc.30.150.155.

ISOLATION AND PROPERTIES OF LENS ALDOSE REDUCTASE.晶状体醛糖还原酶的分离与特性

J Biol Chem. 1965 Feb;240:877-82.

THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA.先天性半乳糖血症患者的半乳糖代谢

Am J Med. 1965 Jan;38:62-70. doi: 10.1016/0002-9343(65)90160-9.

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.一种导致1-磷酸半乳糖尿苷转移酶缺乏的新的基因异常。

Lancet. 1965 Feb 13;1(7381):353-4. doi: 10.1016/s0140-6736(65)91782-4.

Enzymic evidence of a galactosemic trait in parents of galactosemic children.

Ann Hum Genet. 1959 Apr;23(2):117-26. doi: 10.1111/j.1469-1809.1958.tb01456.x.

A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion.半乳糖血症的临床与生化研究；对生化病变本质的一种可能解释。

Arch Dis Child. 1956 Aug;31(158):254-64. doi: 10.1136/adc.31.158.254.

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.

Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.杜阿尔特等位基因损害人类淋巴母细胞中1-磷酸半乳糖尿苷转移酶的生物稳定性。

Hum Mutat. 1998;11(1):28-38. doi: 10.1002/(SICI)1098-1004(1998)11:1<28::AID-HUMU5>3.0.CO;2-H.

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