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Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

In the 13 years since hepatic glycogen synthetase deficiency was first described in identical twins no further cases seem to have been observed. We report a child who had suffered from occasional morning convulsions since the age of 7. Three 24-hour metabolic profiles showed fasting hypoglycaemia, h...

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Autors principals: Aynsley-Green, A, Williamson, D H, Gitzelmann, R
Format: Artigo
Idioma:Inglês
Publicat: 1977
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1544763/
https://ncbi.nlm.nih.gov/pubmed/141912
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