外分泌性胰腺功能不全、中性粒细胞减少、干骺端发育不良和侏儒症综合征。 - Suppr

Suppr

超能文献

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

作者信息

Shmerling D H, Prader A, Hitzig W H, Giedion A, Hadorn B, Kühni M

出版信息

Helv Paediatr Acta. 1969 Dec;24(6):547-75.

PMID:5370796

Abstract

摘要

相似文献

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

Helv Paediatr Acta. 1969 Dec;24(6):547-75.

[Shwachman syndrome (pancreatic insufficiency, neutropenia, metaphyseal dysplasia and dwarfism)].

Ned Tijdschr Geneeskd. 1971 Nov 27;115(48):2012-7.

[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and retarded growth (Shwachman's syndrome)].

Dtsch Med Wochenschr. 1972 Jun 9;97(23):902-6. doi: 10.1055/s-0028-1107466.

[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and growth retardation (Shwachman syndrome) with transient disturbances of carbohydrate metabolism].

Z Gesamte Inn Med. 1974 Apr 15;29(8):337-9.

Peripheral dysostosis associated with juvenile nephronophthisis.

Br J Radiol. 1975 Sep;48(573):765-6. doi: 10.1259/0007-1285-48-573-765.

Unusual bone changes in exocrine pancreas insufficiency with cyclic neutropenia.

Acta Radiol Diagn (Stockh). 1972 Jul;12(4):428-32. doi: 10.1177/028418517201200404.

Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

Helv Paediatr Acta. 1974 Nov;29(5):471-9.

[Hereditary systemic diseases of the skeleton].

Radiologe. 1973 Apr;13(4):141-6.

Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders.

Radiology. 1969 Sep;93(3):563-71. doi: 10.1148/93.3.563.

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Arch Dis Child. 1976 Oct;51(10):799-801. doi: 10.1136/adc.51.10.799.

引用本文的文献

Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.

Pediatr Radiol. 2015 Jul;45(7):1066-71. doi: 10.1007/s00247-014-3231-6. Epub 2014 Nov 23.

Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.

J Pediatr. 2013 Jun;162(6):1235-40, 1240.e1. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.

A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis.

Endocrine. 2011 Aug;40(1):146-7. doi: 10.1007/s12020-011-9460-7.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15.

Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

Am J Hum Genet. 2000 Apr;66(4):1413-6. doi: 10.1086/302856. Epub 2000 Mar 14.

Shwachman's syndrome. A review of 21 cases.

Arch Dis Child. 1980 May;55(5):331-47. doi: 10.1136/adc.55.5.331.

Constant defect in neutrophil locomotion but with age decreasing susceptibility to infection in Shwachman syndrome.

Clin Exp Immunol. 1984 Jul;57(1):249-55.

Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Arch Dis Child. 1973 Feb;48(2):143-6. doi: 10.1136/adc.48.2.143.

Metaphyseal chondrodysplasia with dwarfism, pancreatic insufficiency and neutropenia.

Pediatr Radiol. 1973 Jul;1(2):119-26. doi: 10.1007/BF00973227.

International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验