Familial benign copper deficiency: an old case re-examined.
Acta Paediatr Hung
; 29(3-4): 313-5, 1988.
Article
en En
| MEDLINE
| ID: mdl-2978614
ABSTRACT
Seven years follow-up and re-examinations of a boy and his mother with "familial benign copper deficiency" revealed repeatedly subnormal serum copper and normal caeruloplasmin levels with relatively good psychosomatic development in the 9-year-old index patient. 64Cu-uptake was elevated in the mother's and normal in the proband's fibroblasts. The pathomechanism of the condition remained unknown, but the biochemical findings and the clinical course did not correspond to any of the previously described forms of congenital defects of copper metabolism.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ceruloplasmina
/
Cobre
/
Errores Innatos del Metabolismo
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Acta Paediatr Hung
Año:
1988
Tipo del documento:
Article
País de afiliación:
Hungria