The 1‐ 13 C galactose breath...

Journal of Inherited Metabolic Disease 2019 / 12

The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Welsink‐Karssies, Mendy M., Harskamp, Dewi, Ferdinandusse, Sacha, Hollak, Carla E.M., Huidekoper, Hidde H., Janssen, Mirian C.H., Kemper, E. Marleen, Langendonk, Janneke G., Rubio‐Gozalbo, M. Estela,
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Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12207
Date:
December, 2019
File:
PDF, 1.67 MB
2019
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