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A case of congenital nonspherocytic haemolytic anaemia associated with a new abnormal glucosephosphate isomerase (GPI), GSH (reduced glutathione) deficiency, and instability and altered carbohydrate membrane composition is reported. The only functional abnormality of the mutant enzyme seems to be a marked instability to heat, urea, and guanidine-HCl. Family studies suggest that the propositus is doubly heterozygous for a maternal gene producing an inactive enzyme and a paternal gene responsible for a structural alteration causing marked lability of the coded enzyme. Experiments of incubation of normal GPI and the propositus's GPI with oxidizing and reducing agents seem to indicate that the abnormality resides in the SH groups of the mutant GPI.
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
June 1974,
Annals of internal medicine,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
December 1975,
Clinica chimica acta; international journal of clinical chemistry,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
July 1977,
Clinica chimica acta; international journal of clinical chemistry,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
February 1983,
Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
August 1968,
Blood,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
March 1979,
Clinica chimica acta; international journal of clinical chemistry,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
January 1978,
Scandinavian journal of haematology,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
December 1997,
Blood cells, molecules & diseases,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
April 1976,
Helvetica paediatrica acta,
A Zanella, and
P Rebulla, and
C Izzo, and
F Zanuso, and
I Kahane, and
E Molinari, and
G Sirchia
November 1977,
British journal of haematology,
