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Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI)...

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Detalhes bibliográficos
Main Authors: Bayarchimeg, Mashbat, Ismail, Dunia, Lam, Amanda, Burk, Derek, Kirk, Jeremy, Hogler, Wolfgang, Flanagan, Sarah E, Ellard, Sian, Hussain, Khalid
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509914/
https://ncbi.nlm.nih.gov/pubmed/23430910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_110
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