Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

Classic galactosemia is a rare genetic disease of the galactose metabolism, resulting from deficient activity of galactose-1-phosphate uridylyltransferase (GALT). The current standard of care is lifelong dietary restriction of galactose, which however fails to prevent the development of long-term co...

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Pubblicato in:JIMD Rep
Autori principali: Coelho, Ana I., Trabuco, Matilde, Silva, Maria João, de Almeida, Isabel Tavares, Leandro, Paula, Rivera, Isabel, Vicente, João B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484908/
https://ncbi.nlm.nih.gov/pubmed/25814382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_420
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