The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa

Author:

Henderson Howard,Leisegang Felicity,Brown Ruth,Eley Brian

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference25 articles.

1. Segal S, Berry GT: Disorders of galactose metabolism. In: The metabolic and molecular bases of inherited diseases:. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. 1995, McGraw-Hill, Inc., 1: 967-1000. 7

2. Waggoner D, Buist N, Donnell G: Long-term prognosis in galactosemia: Results of a survey of 350 cases. J Inherit Metab Dis. 1990, 13: 802-818.

3. Raadsveld C, Klomp H: Thin-layer chromatographic analysis of sugar mixtures. J Cromatogr. 1971, 57: 99-10.1016/0021-9673(71)80011-0.

4. Beutler E, Mitchell M: New rapid method for the estimation of red cell galactose-1-phosphate uridyltransferase activity. Lab Clin Med. 1968, 72: 527-532.

5. Levy NS, Krille AF, Beutler E: Galactokinase deficiency and cataracts. Am J Opthal. 1972, 74: 41-48.

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