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Literature DB >> 5553957

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

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

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 1971 PMID： 5553957 DOI： 10.1016/0002-9343(71)90230-0

Source DB: PubMed Journal: Am J Med ISSN： 0002-9343 Impact factor: 4.965

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11 in total

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

Authors: Y Okano; M Asada; A Fujimoto; A Ohtake; K Murayama; K J Hsiao; K Choeh; Y Yang; Q Cao; J K Reichardt; S Niihira; T Imamura; T Yamano
Journal: Am J Hum Genet Date: 2001-02-23 Impact factor: 11.025

2. Pregnancy-exaggerated galactosemia and congenital cataracts.

Authors: S Ramakrishnan; K N Sulochana; R Punitham; B Kar; K Ravishankar; S B Vasanthi; P Lakshminarayanan
Journal: Indian J Pediatr Date: 1998 Nov-Dec Impact factor: 1.967

3. 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.

Authors: John Gately Luz; Christian A Hassig; Catherine Pickle; Adam Godzik; Barbara J Meyer; Ian A Wilson
Journal: Genes Dev Date: 2003-04-02 Impact factor: 11.361

Review 4. Food intolerance in humans.

Authors: R H Herman; L Hagler
Journal: West J Med Date: 1979-02

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

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

2. Pregnancy-exaggerated galactosemia and congenital cataracts.

3. 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.

Review 4. Food intolerance in humans.

5. Galactose tolerance studies of individuals with reduced galactose pathway activity.

Review 6. Clinical features of galactokinase deficiency: a review of the literature.

Review 7. Inherited metabolic diseases affecting the carrier.

8. Idiopathic presenile cataract formation and galactosaemia.

9. Galactosemic enzyme levels in presenile cataracts.

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