ISSN:
1432-1076
Schlagwort(e):
Key words Pyruvate kinase
;
Haemolytic anaemia
;
Hydrops fetalis
;
Mutations
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s004310051314
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