Source:http://linkedlifedata.com/resource/pubmed/id/20052779
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
2010-3-15
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
1545-5017
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
54
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
758-60
|
| pubmed:meshHeading |
pubmed-meshheading:20052779-Anemia, Hemolytic, Congenital Nonspherocytic,
pubmed-meshheading:20052779-Cholestasis,
pubmed-meshheading:20052779-Glucosephosphate Dehydrogenase Deficiency,
pubmed-meshheading:20052779-Humans,
pubmed-meshheading:20052779-Infant, Newborn,
pubmed-meshheading:20052779-Infant, Premature,
pubmed-meshheading:20052779-Jaundice, Neonatal,
pubmed-meshheading:20052779-Kernicterus,
pubmed-meshheading:20052779-Male,
pubmed-meshheading:20052779-Mutation, Missense
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
|
| pubmed:affiliation |
Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany. kordes@uke.de
|
| pubmed:publicationType |
Journal Article,
Case Reports
|