Literature DB >> 8285758

Fetal anaemia due to pyruvate kinase deficiency.

F Gilsanz1, M A Vega, E Gómez-Castillo, J A Ruiz-Balda, F Omeñaca.   

Abstract

Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.

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Year:  1993        PMID： 8285758      PMCID： PMC1029598          DOI： 10.1136/adc.69.5_spec_no.523

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

Review 1.  Hydrops revisited: literature review of 1,414 cases published in the 1980s.

Authors:  G A Machin
Journal:  Am J Med Genet       Date:  1989-11

2.  Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.

Authors:  Y Ravindranath; D E Paglia; I Warrier; W Valentine; M Nakatani; R A Brockway
Journal:  N Engl J Med       Date:  1987-01-29       Impact factor: 91.245

3.  Normal activities of glycolytic enzymes in the fetal erythrocytes.

Authors:  A N Lestas; C H Rodeck; J M White
Journal:  Br J Haematol       Date:  1982-03       Impact factor: 6.998

4.  Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

Authors:  B Neubauer; M Lakomek; H Winkler; M Parke; S Hofferbert; W Schröter
Journal:  Blood       Date:  1991-05-01       Impact factor: 22.113

5.  Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

Authors:  H Kanno; H Fujii; A Hirono; M Omine; S Miwa
Journal:  Blood       Date:  1992-03-01       Impact factor: 22.113
  5 in total
  5 in total

Review 1.  Haemolytic disease of the newborn.

Authors:  Neil A Murray; Irene A G Roberts
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2007-03       Impact factor: 5.747

2.  Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia.

Authors:  Jin Han; Jian Li; Dong-Zhi Li
Journal:  Indian J Hematol Blood Transfus       Date:  2021-11-30       Impact factor: 0.900

Review 3.  Erythrocyte disorders in the perinatal period.

Authors:  Laurie A Steiner; Patrick G Gallagher
Journal:  Semin Perinatol       Date:  2007-08       Impact factor: 3.300

4.  Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

Authors:  Maria Garcia-Gomez; Andrea Calabria; Maria Garcia-Bravo; Fabrizio Benedicenti; Penelope Kosinski; Sergio López-Manzaneda; Collin Hill; María Del Mar Mañu-Pereira; Miguel A Martín; Israel Orman; Joan-LLuis Vives-Corrons; Charles Kung; Axel Schambach; Shengfang Jin; Juan A Bueren; Eugenio Montini; Susana Navarro; Jose C Segovia
Journal:  Mol Ther       Date:  2016-05-03       Impact factor: 11.454

5.  Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

Authors:  Nestor W Meza; Maria E Alonso-Ferrero; Susana Navarro; Oscar Quintana-Bustamante; Antonio Valeri; Maria Garcia-Gomez; Juan A Bueren; Jose M Bautista; Jose C Segovia
Journal:  Mol Ther       Date:  2009-09-15       Impact factor: 11.454
  5 in total

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