Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
Author(s) -
Paula Ferreira,
Lívia H. Morais,
Ricardo J. S. Costa,
C. Resende,
C. Paz Dias,
Filipe Araújo,
Elı́sio Costa,
José Barbot,
António Vilarinho
Publication year - 2000
Publication title -
european journal of pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.984
H-Index - 93
eISSN - 1432-1076
pISSN - 0340-6199
DOI - 10.1007/s004310051314
Subject(s) - pyruvate kinase deficiency , hydrops fetalis , pyruvate kinase , medicine , differential diagnosis , disease , fetus , pregnancy , pathology , metabolism , genetics , biology , glycolysis
The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease.
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