一名儿童因半乳糖激酶缺乏导致白内障、半乳糖尿症和高半乳糖血症。一个家族的研究。 - Suppr

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Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.

作者信息

Monteleone J A, Beutler E, Monteleone P L, Utz C L, Casey E C

出版信息

Am J Med. 1971 Mar;50(3):403-7. doi: 10.1016/0002-9343(71)90230-0.

DOI:10.1016/0002-9343(71)90230-0

PMID:5553957

Abstract

摘要

相似文献

Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.

Am J Med. 1971 Mar;50(3):403-7. doi: 10.1016/0002-9343(71)90230-0.

Cataracts and galactokinase deficiency.

N Engl J Med. 1972 Jul 27;287(4):202-3. doi: 10.1056/NEJM197207272870427.

Galactokinase deficiency and cataracts.

Am J Ophthalmol. 1972 Jul;74(1):41-8. doi: 10.1016/0002-9394(72)91123-3.

Galactokinase deficiency in twins: clinical and biochemical studies.

Pediatrics. 1974 Mar;53(3):314-8.

Galactokinase deficiency: clinical and biochemical findings in a new kindred.

J Pediatr. 1972 Jul;81(1):50-5. doi: 10.1016/s0022-3476(72)80373-1.

Galactokinase-deficiency cataracts in identical twins.

Am J Ophthalmol. 1972 Nov;74(5):887-92. doi: 10.1016/0002-9394(72)91209-3.

Galactose intolerance and the risk of cataract.

Br J Ophthalmol. 1982 Jul;66(7):438-41. doi: 10.1136/bjo.66.7.438.

Clinical features of galactokinase deficiency: a review of the literature.

J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436.

Hereditary galactokinase deficiency.

Arch Dis Child. 1971 Aug;46(248):465-9. doi: 10.1136/adc.46.248.465.

Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

Lancet. 1974 Aug 3;2(7875):259-61. doi: 10.1016/s0140-6736(74)91417-2.

引用本文的文献

Clinical features of galactokinase deficiency: a review of the literature.

J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436.

XOL-1, primary determinant of sexual fate in C. elegans, is a GHMP kinase family member and a structural prototype for a class of developmental regulators.

Genes Dev. 2003 Apr 15;17(8):977-90. doi: 10.1101/gad.1082303. Epub 2003 Apr 2.

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23.

Pregnancy-exaggerated galactosemia and congenital cataracts.

Indian J Pediatr. 1998 Nov-Dec;65(6):919-24. doi: 10.1007/BF02831365.

Inherited metabolic diseases affecting the carrier.

J Inherit Metab Dis. 1997 Mar;20(1):9-20. doi: 10.1023/a:1005397120726.

Galactosemic enzyme levels in presenile cataracts.

Graefes Arch Clin Exp Ophthalmol. 1982;219(2):100-1. doi: 10.1007/BF02173449.

Idiopathic presenile cataract formation and galactosaemia.

Br J Ophthalmol. 1989 Jan;73(1):48-51. doi: 10.1136/bjo.73.1.48.

Cataract and metabolic disease.

J Inherit Metab Dis. 1990;13(4):509-16. doi: 10.1007/BF01799508.

Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.

Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10887-91. doi: 10.1073/pnas.89.22.10887.

Food intolerance in humans.

West J Med. 1979 Feb;130(2):95-116.

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相似文献

Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.

Am J Med. 1971 Mar;50(3):403-7. doi: 10.1016/0002-9343(71)90230-0.

Cataracts and galactokinase deficiency.

N Engl J Med. 1972 Jul 27;287(4):202-3. doi: 10.1056/NEJM197207272870427.

Galactokinase deficiency and cataracts.

Am J Ophthalmol. 1972 Jul;74(1):41-8. doi: 10.1016/0002-9394(72)91123-3.

Galactokinase deficiency in twins: clinical and biochemical studies.

Pediatrics. 1974 Mar;53(3):314-8.

Galactokinase deficiency: clinical and biochemical findings in a new kindred.

J Pediatr. 1972 Jul;81(1):50-5. doi: 10.1016/s0022-3476(72)80373-1.

Galactokinase-deficiency cataracts in identical twins.

Am J Ophthalmol. 1972 Nov;74(5):887-92. doi: 10.1016/0002-9394(72)91209-3.

Galactose intolerance and the risk of cataract.

Br J Ophthalmol. 1982 Jul;66(7):438-41. doi: 10.1136/bjo.66.7.438.

Clinical features of galactokinase deficiency: a review of the literature.

J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436.

Hereditary galactokinase deficiency.

Arch Dis Child. 1971 Aug;46(248):465-9. doi: 10.1136/adc.46.248.465.

Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

Lancet. 1974 Aug 3;2(7875):259-61. doi: 10.1016/s0140-6736(74)91417-2.

引用本文的文献

Clinical features of galactokinase deficiency: a review of the literature.

J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436.

XOL-1, primary determinant of sexual fate in C. elegans, is a GHMP kinase family member and a structural prototype for a class of developmental regulators.

Genes Dev. 2003 Apr 15;17(8):977-90. doi: 10.1101/gad.1082303. Epub 2003 Apr 2.

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23.

Pregnancy-exaggerated galactosemia and congenital cataracts.

Indian J Pediatr. 1998 Nov-Dec;65(6):919-24. doi: 10.1007/BF02831365.

Inherited metabolic diseases affecting the carrier.

J Inherit Metab Dis. 1997 Mar;20(1):9-20. doi: 10.1023/a:1005397120726.

Galactosemic enzyme levels in presenile cataracts.

Graefes Arch Clin Exp Ophthalmol. 1982;219(2):100-1. doi: 10.1007/BF02173449.

Idiopathic presenile cataract formation and galactosaemia.

Br J Ophthalmol. 1989 Jan;73(1):48-51. doi: 10.1136/bjo.73.1.48.

Cataract and metabolic disease.

J Inherit Metab Dis. 1990;13(4):509-16. doi: 10.1007/BF01799508.

Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.

Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10887-91. doi: 10.1073/pnas.89.22.10887.

Food intolerance in humans.

West J Med. 1979 Feb;130(2):95-116.