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.

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@article{d4804f32e91a40c6a6ed2421eb46402f,
title = "Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.",
abstract = "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.",
author = "Uwe Kordes and Andrea Briem-Richter and Ren{\'e} Santer and Hansj{\"o}rg Sch{\"a}fer and Dominique Singer and Josef Sonntag and Ulrike Steuerwald and Reinhard Schneppenheim and Gritta Janka-Schaub",
year = "2010",
language = "Deutsch",
volume = "54",
pages = "758--760",
journal = "PEDIATR BLOOD CANCER",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "5",

}

RIS

TY - JOUR

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 -