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Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Title
Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
Type
Article in International Scientific Journal
Year
2000
Authors
Ferreira, P
(Author)
Other
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Morais, L
(Author)
Other
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Costa, R
(Author)
Other
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Resende, C
(Author)
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Dias, CP
(Author)
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Araujo, F
(Author)
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Costa, E
(Author)
FFUP
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Barbot, J
(Author)
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Vilarinho, A
(Author)
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Journal
Vol. 159
Pages: 481-482
ISSN: 0340-6199
Publisher: Springer Nature
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-000-ZKN
Abstract (EN): 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.
Language: English
Type (Professor's evaluation): Scientific
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