Neurodevelopmental outcomes of duarte galactosemia: an exploration of cognitive development and special needs in duarte galactosemia patients
Duarte galactosemia is a variant form of galactosemia that on average results in a reduction of the galactose-1-phosphate uridyltransferase enzyme to 25% activity. This enzyme is involved in the metabolism of galactose in the body. On the contrary, patients diagnosed with the classic form of galacto...
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| Language: | en_US |
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2016
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| Online Access: | https://hdl.handle.net/2144/14697 |