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pro vyhledávání: '"Stefanie J. Perez Juanazo"'
Autor:
Hans C. Andersson, Grace Stuhrman, Eva Morava, Kea Crivelly, Jennifer Smith, Stefanie J. Perez Juanazo
Publikováno v:
JIMD Reports ISBN: 9783662561379
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G