Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote

Author:

Wharton Charles H.,Berry Helen K.,Bofinger Mary K.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test;Anderson;J. Lab. clin. Med.,1957

2. The genetics of galactose-1-uridyl transferase deficiency;Beutler;J. Lab. clin. Med.,1966

3. Unstable galactose-1-phosphate uridyl transferase: A new variant of galactosemia;Chacko;J. Pediat.,1971

4. Purification of normal and inactive galactosemic galac-tose-1-phosphate uridyl transferase from human red cells;Dale;J. biol. Chem.,1976

5. The estimation of galactose-1-phosphate in red cells;Fenton;Clin. chim. Acta.,1965

Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. 10 Other hereditary diseases and the liver;Baillière's Clinical Gastroenterology;1998-06

2. Partial deficiency of galactose-1-phosphate uridyltransferase;European Journal of Pediatrics;1995-02

3. Galactosemia: screening and diagnosis;Clinical Biochemistry;1991-08

4. Disorders of Galactose Metabolism;Inborn Metabolic Diseases;1990

5. Galactosaemia — thirty years on. the experience of a generation;Journal of Inherited Metabolic Disease;1982-06

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