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Variability in the clinical manifestations of galactosemia

โœ Scribed by David Yi-Yung Hsia; Frank A. Walker


Book ID
118533153
Publisher
Elsevier Science
Year
1962
Tongue
English
Weight
266 KB
Volume
61
Category
Article
ISSN
1097-6833

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The Chicago variant of clinical galactos
โœ Claramma M. Chacko; Rebecca S. Wappner; Ira K. Brandt; Henry L. Nadler ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 538 KB

A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood