Literature DB >> 15920082

A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy.

Tomohiro Kamoda1, Takashi Saito, Hideyo Kinugasa, Nobuaki Iwasaki, Ryo Sumazaki, Youko Mouri, Isho Izumi, Takeki Hirano, Akira Matsui.   

Abstract

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Year:  2005        PMID： 15920082     DOI： 10.2337/diacare.28.6.1508

Source DB:  PubMed          Journal:  Diabetes Care        ISSN： 0149-5992            Impact factor:   19.112


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  4 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.  Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.

Authors:  Sandra Perobelli; Franco Alessandrini; Giada Zoccatelli; Elena Nicolis; Alberto Beltramello; Baroukh M Assael; Marco Cipolli
Journal:  Neuroimage Clin       Date:  2015-02-27       Impact factor: 4.881

3.  Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

Authors:  Heidi Schaballie; Marleen Renard; Christiane Vermylen; Isabelle Scheers; Nicole Revencu; Luc Regal; David Cassiman; Lieve Sevenants; Ilse Hoffman; Anniek Corveleyn; Victoria Bordon; Filomeen Haerynck; Karel Allegaert; Kris De Boeck; Tania Roskams; Nancy Boeckx; Xavier Bossuyt; Isabelle Meyts
Journal:  Eur J Pediatr       Date:  2013-01-12       Impact factor: 3.860

4.  Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.

Authors:  Shin Yeu Ong; Shao-Tzu Li; Gee Chuan Wong; Aloysius Yew Leng Ho; Chandramouli Nagarajan; Joanne Ngeow
Journal:  Leuk Res Rep       Date:  2018-04-09
  4 in total

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