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phosphomannose isomerase deficiency
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phosphomannose isomerase deficiency

pathology
Also known as: type Ib congenital disorder of glycosylation
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Learn about this topic in these articles:

  • Enzyme defects in urea cycle disorders.
    metabolic disease
    / Congenital disorders of glycosylation

    …rare type Ib disease (phosphomannose isomerase deficiency), in which oral administration of mannose may reverse symptoms in some cases.

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    …rare type Ib disease (phosphomannose isomerase deficiency), in which oral administration of mannose may reverse symptoms in some cases.

    Read More