Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis

Journal of Pediatrics

Volumn 150, Issue 4, 2007, Pages 443-445

  Pissard, Serge ^a   de Montalembert, Mariane ^b   Bachir, Dora ^a   Max Audit, Isabelle ^a   Goossens, Michel ^a   Wajcman, Henri ^a   Bader Meunier, Brigitte ^c  

^a HENRI MONDOR HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIRTH; CLINICAL ARTICLE; DELAYED DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE COUNT; FEMALE; HEMOLYSIS; HETEROZYGOTE; HUMAN; INFANT; LABORATORY TEST; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE KINASE DEFICIENCY;

ANEMIA; FEMALE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PYRUVATE KINASE; TREATMENT OUTCOME;

EID: 33947318429     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2007.01.039     Document Type: Article

References (6)

1. Nathan D.G., and Oski F.A. Hematology of Infancy and Childhood. 6th ed. (2003), Harcourt Health Sciences, Philadelphia
2. Zanella A., and Bianchi P. RBC pyruvate kinase deficiency: from genetics to clinical manifestations. Bailliere's Clin Haematol 13 (2000) 57-81
3. Beutler E., Blume K.G., Kaplan J.C., Lohr G.W., Ramot B., and Valentine W.N. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. Br J Haematol 35 (1977) 331-340
4. Kling P.J., Schmidt R.L., Roberts R.A., and Widness J.A. Serum erythropoietin levels during infancy: associations with erythropoiesis. J Pediatr 128 (1996) 791-796
5. Zanella A., Fermo E., Bianchi P., and Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol 130 (2005) 11-25
6. Pissard S., Max-Audit I., Skopinski L., Vasson A., Vivien P., Bimet C., et al. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutation. Br J Haematol 133 (2006) 683-689