A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice

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Bibliographic Details
Published inEuropean journal of pediatrics Vol. 160; no. 8; pp. 523 - 524
Main Authors COTTON, Frédéric, BIANCHI, Paola, ZANELLA, Alberto, VAN DEN BOGAERT, Nicole, FERSTER, Alice, HANSEN, Valérie, VAN HERREWEGHE, Inge, VERTONGEN, Francoise, GULBIS, Béatrice
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.08.2001
Berlin Springer Nature B.V
Subjects
Anemia, Hemolytic - genetics
Anemia, Hemolytic - therapy
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
Erythrocytes - enzymology
Exchange Transfusion, Whole Blood
Hematologic and hematopoietic diseases
Humans
Infant, Newborn
Jaundice, Neonatal - genetics
Male
Medical sciences
Mutation
Pyruvate Kinase - deficiency
Respiratory Distress Syndrome, Newborn - genetics
Human
Jaundice
Pyruvate kinase
Respiratory disease
Enzyme
Transferases
Deficiency
Neonatal distress
Hemopathy
Case study
Hemolytic anemia
Newborn
EC 2.7.1.40
Respiratory distress
Mutation
Severe
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More Information
ISSN:0340-6199
1432-1076
DOI:10.1007/PL00008456