Hepatic dysfunction and dysgammaglobulinaemia in Shwachman-Diamond syndrome.
作者信息
Mäki M, Sorto A, Hällström O, Visakorpi J K
出版信息
Arch Dis Child. 1978 Aug;53(8):693-4. doi: 10.1136/adc.53.8.693-b.
Abstract
摘要
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Hepatic dysfunction and dysgammaglobulinaemia in Shwachman-Diamond syndrome.施瓦赫曼-戴蒙德综合征中的肝功能障碍和γ球蛋白血症异常
Arch Dis Child. 1978 Aug;53(8):693-4. doi: 10.1136/adc.53.8.693-b.
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Cirrhosis complicating Shwachman-Diamond syndrome: A case report.肝硬化合并施瓦赫曼-戴蒙德综合征：一例报告。
World J Clin Cases. 2019 Jun 26;7(12):1456-1460. doi: 10.12998/wjcc.v7.i12.1456.
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Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.施瓦赫曼-戴蒙德综合征：临床表现、分子发病机制、诊断及治疗综述
Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007.
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Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.某些常见变异型免疫缺陷病例可能归因于施-戴二氏综合征的SBDS基因突变。
Clin Exp Immunol. 2008 Mar;151(3):448-54. doi: 10.1111/j.1365-2249.2007.03556.x. Epub 2008 Jan 10.
本文引用的文献
1
Severe selective IgM deficiency.严重选择性IgM缺乏症。
J Clin Pathol. 1976 Sep;29(9):773-7. doi: 10.1136/jcp.29.9.773.
2
Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.肝功能障碍伴胰腺功能不全和周期性中性粒细胞减少症。施瓦赫曼-戴蒙德综合征。
Arch Dis Child. 1977 Jan;52(1):76-8. doi: 10.1136/adc.52.1.76.
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