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- W2101455704 abstract "Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest." @default.
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- W2101455704 date "2014-02-06" @default.
- W2101455704 modified "2023-10-18" @default.
- W2101455704 title "Multiple Phenotypes in Phosphoglucomutase 1 Deficiency" @default.
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- W2101455704 doi "https://doi.org/10.1056/nejmoa1206605" @default.
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