Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.

doi:10.1016/s0022-3476(95)70124-9

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Article

Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.

The Journal of pediatrics - 1 Oct 1995

Rosoff P M

Abstract excerpt

A 4-year-old girl known to have peripheral uridine diphosphate-galactose 4-epimerase deficiency was examined for bruising and thrombocytopenia. She had dysplastic peripheral blood and bone marrow changes, with a global platelet function defect. Uridine diphosphate-galactose-4-epimerase participat...

Topics

Bone Marrow
Child, Preschool
Female
Glycosylation
Humans
Leukopenia
Membrane Glycoproteins
Metabolic Diseases
Myelodysplastic Syndromes
Phenotype
Receptors, Colony-Stimulating Factor
UDPglucose 4-Epimerase

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