Galaktokinase-Defekt bei einem Neugeborenen-Reference-Cited by-同舟云学术

Galaktokinase-Defekt bei einem Neugeborenen

Published:1970-01 Issue:1 Volume:48 Page:31-33
ISSN:0023-2173
Container-title:Klinische Wochenschrift
language:de
Short-container-title:Klin Wochenschr

Author:

Linneweh F.,Schauml�ffel E.,Vetrella M.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/article/10.1007/BF01486125/fulltext.html

Reference4 articles.

1. Gitzelmann, R.: Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediat. Res.1, 14 (1967).

2. Thalhammer, O., R. Gitzelmann, and M. Pantlitschko: Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. Pediat. (St. Louis)42, 441 (1968).

3. Weinberg, A. N.: Detection of congenital galactosemia and the carrier state using galactose C14 and blood cells. Metabolism 10, 728 (1961).

4. Won G. Ng, G. N. Donnell, and W. R. Bergen: Galactokinase activity in human erythrocytes of individuals at different ages. J. Lab. clin. Med.66, 115 (1965).

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1. Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening;Archives of Medical Research;2011-10

2. Clinical features of galactokinase deficiency:A review of the literature;Journal of Inherited Metabolic Disease;2003-02

3. Inborn Errors of Carbohydrate Metabolism;Principles of Perinatal—Neonatal Metabolism;1998

4. Galactose and cataract;Survey of Ophthalmology;1988-03

5. Galactose metabolism, hereditary defects and their clinical significance;Inherited Disorders of Carbohydrate Metabolism;1980