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PubMed · 1070290

[Phospho-hexo-isomerase deficiency].

J P Van Biervliet·J W Stoop·G E Staal
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Abstract

Hematologic, genetic and biochemical data of two patients suffering from glucosephosphate isomerase deficiency are described. In one of them a generalized deficiency could be demonstrated. The molecular instability of the deficient enzyme results in early inactivation. Its consequences for carbohydrate metabolism are exposed. Besides a non-spherocytic hemolytic anemia, a hepatic glycogenosis could be observed. Our patients are compared to litterature.

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Anemia, Hemolytic, Congenital NonspherocyticCarbohydrate Metabolism, Inborn ErrorsChildFemaleGlycogen Storage DiseaseGlycolysisHumansInfantPedigreeCase ReportsEnglish AbstractJournal Article

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J P Van Biervliet, J W Stoop, G E Staal. 1976. [Phospho-hexo-isomerase deficiency].. https://pubmed.ncbi.nlm.nih.gov/1070290/

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