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Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder

Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Kamate, Mahesh, Jambagi, Milind, Gowda, Prashanth, Sonoli, Smita
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2014
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4173192/
https://ncbi.nlm.nih.gov/pubmed/25246452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-201553
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