Hydrops fetalis associated with red cell pyruvate kinase deficiency

R. C. Hennekam; F. A. Beemer; B. P. Cats; G. Jansen; G. E. Staal

Hydrops fetalis associated with red cell pyruvate kinase deficiency

R. C. Hennekam, F. A. Beemer, B. P. Cats, G. Jansen, G. E. Staal

Research output: Contribution to journal › Article › Academic › peer-review

26 Citations (Scopus)

Abstract

A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation

Original language	English
Pages (from-to)	75-79
Number of pages	5
Journal	Genetic counseling (Geneva, Switzerland)
Volume	1
Issue number	1
Publication status	Published - 1990

Keywords

Erythrocytes/enzymology
Fetal Death
Humans
Hydrops Fetalis/enzymology
Male
Pyruvate Kinase/deficiency
Twins

Cite this

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title = "Hydrops fetalis associated with red cell pyruvate kinase deficiency",

abstract = "A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation",

keywords = "Erythrocytes/enzymology, Fetal Death, Humans, Hydrops Fetalis/enzymology, Male, Pyruvate Kinase/deficiency, Twins",

author = "Hennekam, {R. C.} and Beemer, {F. A.} and Cats, {B. P.} and G. Jansen and Staal, {G. E.}",

year = "1990",

language = "English",

volume = "1",

pages = "75--79",

journal = "Genetic counseling (Geneva, Switzerland)",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

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T1 - Hydrops fetalis associated with red cell pyruvate kinase deficiency

AU - Hennekam, R. C.

AU - Beemer, F. A.

AU - Cats, B. P.

AU - Jansen, G.

AU - Staal, G. E.

PY - 1990

Y1 - 1990

N2 - A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation

AB - A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation

KW - Erythrocytes/enzymology

KW - Fetal Death

KW - Humans

KW - Hydrops Fetalis/enzymology

KW - Male

KW - Pyruvate Kinase/deficiency

KW - Twins

M3 - Article

C2 - 2222926

SN - 1015-8146

VL - 1

SP - 75

EP - 79

JO - Genetic counseling (Geneva, Switzerland)

JF - Genetic counseling (Geneva, Switzerland)

IS - 1

ER -