Literature DB >> 21448781

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

M Fatih Akdogan, Mustafa Altay, Nazim Denizli, Murat Gucun, Seher Tanrikulu, Murat Duranay.   

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Year:  2011        PMID： 21448781     DOI： 10.1007/s12020-011-9460-7

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.633


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  5 in total

1.  Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus.

Authors:  Luca Filippi; Michele Tronchin; Marco Pezzati; Gianna Chiti; Carlo Dani; Gian Franco Vichi; Firmino F Rubaltelli
Journal:  J Pediatr Gastroenterol Nutr       Date:  2002-02       Impact factor: 2.839

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

Authors:  D H Shmerling; A Prader; W H Hitzig; A Giedion; B Hadorn; M Kühni
Journal:  Helv Paediatr Acta       Date:  1969-12

3.  Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.

Authors:  Jonas Rosendahl; Niels Teich; Joachim Mossner; Jeanett Edelmann; Christian A Koch
Journal:  Pancreatology       Date:  2006-11-10       Impact factor: 3.996

4.  Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.

Authors:  Sanna Toiviainen-Salo; Mervi K Mäyränpää; Peter R Durie; Nicole Richards; Marc Grynpas; Lynda Ellis; Shiro Ikegawa; William G Cole; Johanna Rommens; Eino Marttinen; Erkki Savilahti; Outi Mäkitie
Journal:  Bone       Date:  2007-09-05       Impact factor: 4.398

5.  Shwachman's syndrome. A review of 21 cases.

Authors:  P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries
Journal:  Arch Dis Child       Date:  1980-05       Impact factor: 3.791
  5 in total
  2 in total

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

Authors:  Kasiani C Myers; Susan R Rose; Meilan M Rutter; Parinda A Mehta; Jane C Khoury; Theresa Cole; Richard E Harris
Journal:  J Pediatr       Date:  2013-01-08       Impact factor: 4.406

2.  Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.

Authors:  Cresio Alves; Julia Constança Fernandes; Silvana Sampaio; Raquel de Melo Alves Paiva; Rodrigo Tocantins Calado
Journal:  Rev Bras Hematol Hemoter       Date:  2013
  2 in total

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