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Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: A case report
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作者 Uta Drebber Matthias Andersen +3 位作者 Hans U Kasper peter lohse Manfred Stolte Hans P Dienes 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第15期2364-2366,共3页
AIM: An inherited deficiency of human lysosomal acid lipase (LAL)results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult.METH... AIM: An inherited deficiency of human lysosomal acid lipase (LAL)results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult.METHODS: We report about an adult female patient with severe chronic diarrhea and weight loss as a consequence of CESD. Clinical examination revealed signs of malabsorption and slightly elevated liver enzymes.RESULTS: Histopathologic changes in the liver tissue and DNA sequence analysis confirmed the diagnosis of CESD due to homozygosity for the most common CESD mutation,a G934A splice site defect encoded by exon 8 of the lysosomal acid lipase (LIPA) gene.CONCLUSION: It is the first case in the literature with diarrhea as a putative symptom of CESD in adult patients. 展开更多
关键词 CESD Acid esterase HYDROLASE Liver biopsy PATHOLOGY DIARRHEA
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Role of the intracellular receptor domain of gp130 (exon 17) in human inflammatory bowel disease
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作者 Christoph J.Auernhammer Kathrin Zitzmann +7 位作者 Fabian Schnitzler Julia Seiderer peter lohse George Vlotides Dieter Engelhardt Michael Sackmann Burkhard G(o|¨)ke Thomas Ochsenkühn 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第8期1196-1199,共4页
AIM: To study the role of the intracellular receptor domain of gp130 in human inflammatory bowel disease (IBD).METHODS: We amplified and sequenced the complete exon 17 of the human gp130 gene in 146 patients with IBD.... AIM: To study the role of the intracellular receptor domain of gp130 in human inflammatory bowel disease (IBD).METHODS: We amplified and sequenced the complete exon 17 of the human gp130 gene in 146 patients with IBD. According to clinical and histopathological signs,the 146 patients with IBD were classified as having Crohn's disease (n = 73) or ulcerative colitis (n = 63),or as indeterminate status (n = 10).RESULTS: No mutations in exon 17 of the gp130 gene could be detected in any of the 146 patients with IBD examined.CONCLUSION: There is no evidence that mutations in exon 17 of the gp130 gene are involved in the pathogenesis of human IBD. 展开更多
关键词 Exon 17 Inflammatory bowel disease gp130 gene
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