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Three cases of Fanconi's anemia are described in three siblings. Cytogenetic studies disclose increase of chromosomal structural anomalies (unclassifiable rearrangements, quadriradials, dicentrics) and suggest in the parents an increase in chromatid-type abnormalities. Further, the mother carries a 46,XX/47, XXX/48, XXXX mosaic and other kinds of aneuploidy. All enzymatic activities in erythrocytes (aerobic and anaerobic glycolysis) in the three children are high (even that of hexokinase), except pyruvate-kinase. These results are reminiscent of those found in other types of bone marrow dysfunctions. An uncomplete investigation of enzymes in leucocytes and platelets discloses activities within normal limits.
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
November 1979,
Klinische Padiatrie,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
January 1981,
La Pediatria medica e chirurgica : Medical and surgical pediatrics,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
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P Frappat
January 1974,
Anales espanoles de pediatria,
P Jalbert, and
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M Bost, and
C Bachelot, and
C Mouriquand, and
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P Frappat
January 1981,
La Pediatria medica e chirurgica : Medical and surgical pediatrics,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
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P Frappat
January 1975,
Nouvelle revue francaise d'hematologie,
P Jalbert, and
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M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
August 1975,
[Rinsho ketsueki] The Japanese journal of clinical hematology,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
January 1976,
Sangre,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
January 1977,
Sangre,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
January 1981,
La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris,
P Jalbert, and
J Leger, and
M Bost, and
C Bachelot, and
C Mouriquand, and
B Sele, and
P Frappat
January 1981,
Seikagaku. The Journal of Japanese Biochemical Society,
