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11. |
Cystosarcoma Phyllodes of the Breast Occurring in a Child With Subsequent Diagnosis of Celiac Disease |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 644-646
Govind Bhagat,
Daniel Leffler,
John Bilezikian,
Peter Green,
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ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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12. |
Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 647-650
Kenji Goto,
Kohachiro Sugiyama,
Tokio Sugiura,
Toshihiro Ando,
Fumihiko Mizutani,
Koji Terabe,
Kyoko Ban,
Hajime Togari,
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PDF (200KB)
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摘要:
BackgroundIn recent years, progressive familial intrahepatic cholestasis has been classified into at least three types by genetic analysis: PFIC1, PFIC2, and MDR3. Liver transplantation is effective for treating patients with this intractable syndrome. Confirming the correct diagnosis is of paramount importance because prognosis after transplantation differs with the genetic type of the disease.MethodsSynthesis of cDNA was accomplished using RNA extracted from liver tissue of two Japanese patients with progressive familial intrahepatic cholestasis. Polymerase chain reaction was performed using 13 primer sets designed for amplification of the bile salt export pump cDNA. Direct sequencing was undertaken, and identified sequences were compared with the sequence for bile salt export pump gene registered with GenBank. In addition, gene sequences for nonprogressive familial intrahepatic cholestasis patients were analyzed.ResultsGenetic analysis of patient 1 revealed that substitutions in bile salt export pump protein sequences, namely R575X and E636G, might be the cause of the disease. In patient 2, V330X and R487H might fulfill the same role. Results of gene analysis in parents and cholestatic controls supported these conclusions.ConclusionsAbsence or presence of bile salt export protein gene mutations was confirmed as representing a useful prognostic marker for clinical course after liver transplantation.
ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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13. |
Letters to the EditorAuthor's Reply |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 651-652
Jörg Fuchs,
Steven Warmann,
Rüdiger Kardoff,
Herbert Rosenthal,
Burkhard Rodeck,
Benno Ure,
Michael Melter,
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ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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14. |
Fat-Laden Macrophages as a Marker of Reflux Aspiration: Still of Some Help |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 652-653
Juan López-Andreu,
José Roqués-Serradilla,
Isidoro Cortell-Aznar,
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PDF (154KB)
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ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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15. |
DoesJAGGED 1Have a Role in the Pathogenesis of Biliary Atresia? |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 654-655
Christian Braegger,
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PDF (112KB)
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ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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16. |
Notices |
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Journal of Pediatric Gastroenterology and Nutrition,
Volume 36,
Issue 5,
2003,
Page 656-659
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ISSN:0277-2116
出版商:OVID
年代:2003
数据来源: OVID
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