Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.
J Pediatr
; 127(4): 605-8, 1995 Oct.
Article
em En
| MEDLINE
| ID: mdl-7562286
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 participates in a metabolic pathway that provides substrates for posttranslational glycosylation of secreted and membrane glycoproteins, including hematopoietic growth factors and their receptors; there may be a causal relationship between the two disorders.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
UDPglucose 4-Epimerase
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Síndromes Mielodisplásicas
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Doenças Metabólicas
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos