Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
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Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency. / Kordes, Uwe; Briem-Richter, Andrea; Santer, René; Schäfer, Hansjörg; Singer, Dominique; Sonntag, Josef; Steuerwald, Ulrike; Schneppenheim, Reinhard; Janka-Schaub, Gritta.
In: PEDIATR BLOOD CANCER, Vol. 54, No. 5, 5, 2010, p. 758-760.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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T1 - Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
AU - Kordes, Uwe
AU - Briem-Richter, Andrea
AU - Santer, René
AU - Schäfer, Hansjörg
AU - Singer, Dominique
AU - Sonntag, Josef
AU - Steuerwald, Ulrike
AU - Schneppenheim, Reinhard
AU - Janka-Schaub, Gritta
PY - 2010
Y1 - 2010
N2 - We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease. Pediatr Blood Cancer. (c) 2010 Wiley-Liss, Inc.
AB - We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease. Pediatr Blood Cancer. (c) 2010 Wiley-Liss, Inc.
M3 - SCORING: Zeitschriftenaufsatz
VL - 54
SP - 758
EP - 760
JO - PEDIATR BLOOD CANCER
JF - PEDIATR BLOOD CANCER
SN - 1545-5009
IS - 5
M1 - 5
ER -