Literature DB >> 19327581

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Lauri Burroughs1, Ann Woolfrey, Akiko Shimamura.   

Abstract

Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.

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Year:  2009        PMID： 19327581      PMCID： PMC2754297          DOI： 10.1016/j.hoc.2009.01.007

Source DB:  PubMed          Journal:  Hematol Oncol Clin North Am        ISSN： 0889-8588            Impact factor:   3.722


  76 in total

1.  [Myocardial fibrosis in Shwachman's syndrome: pathogenic discussion of cardiac complications].

Authors:  J L Nivelon; R Michiels; M N Martres-Lassaunière; A M Passavy-Trouche; A Petit; J L Lorenzini
Journal:  Pediatrie       Date:  1978 Jul-Aug

2.  Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.

Authors:  W G Woods; W Krivit; B H Lubin; N K Ramsay
Journal:  Am J Pediatr Hematol Oncol       Date:  1981

3.  The occurrence of leukemia in patients with the Shwachman syndrome.

Authors:  W G Woods; J S Roloff; J N Lukens; W Krivit
Journal:  J Pediatr       Date:  1981-09       Impact factor: 4.406

4.  Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.

Authors:  M J Brueton; J Mavromichalis; M C Goodchild; C M Anderson
Journal:  Arch Dis Child       Date:  1977-01       Impact factor: 3.791

Review 5.  Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia.

Authors:  Tetsuo Mitsui; Takako Kawakami; Dai Sendo; Michihiko Katsuura; Yukitoshi Shimizu; Kiyoshi Hayasaka
Journal:  Int J Hematol       Date:  2004-02       Impact factor: 2.490

6.  Shwachman-Diamond syndrome and matched unrelated donor BMT.

Authors:  O P Smith; M Y Chan; J Evans; P Veys
Journal:  Bone Marrow Transplant       Date:  1995-11       Impact factor: 5.483

7.  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

8.  Allogeneic bone marrow transplantation in children with myelodysplastic syndrome or juvenile myelomonocytic leukemia: the Seattle experience.

Authors:  U Yusuf; H A Frangoul; T A Gooley; A E Woolfrey; P A Carpenter; R G Andrews; H J Deeg; F R Appelbaum; C Anasetti; R Storb; J E Sanders
Journal:  Bone Marrow Transplant       Date:  2004-04       Impact factor: 5.483

9.  Allogeneic bone marrow transplatation in a patient with Shwachman-Diamond syndrome.

Authors:  L Arseniev; H Diedrich; H Link
Journal:  Ann Hematol       Date:  1996-02       Impact factor: 3.673

10.  Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency.

Authors:  S J Kornfeld; J Kratz; F Diamond; N K Day; R A Good
Journal:  J Allergy Clin Immunol       Date:  1995-08       Impact factor: 10.793
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  47 in total

1.  Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia.

Authors:  Renata Bizzetto; Carmen Bonfim; Vanderson Rocha; Gérard Socié; Franco Locatelli; Kawah Chan; Oscar Ramirez; Joel Stein; Samir Nabhan; Eliana Miranda; Jakob Passweg; Carmino Antonio de Souza; Eliane Gluckman
Journal:  Haematologica       Date:  2010-11-11       Impact factor: 9.941

Review 2.  Neonatal manifestations of inherited bone marrow failure syndromes.

Authors:  Payal P Khincha; Sharon A Savage
Journal:  Semin Fetal Neonatal Med       Date:  2015-12-24       Impact factor: 3.926

Review 3.  Recent progress in congenital diarrheal disorders.

Authors:  Roberto Berni Canani; Gianluca Terrin
Journal:  Curr Gastroenterol Rep       Date:  2011-06

Review 4.  Ribosomopathies: human disorders of ribosome dysfunction.

Authors:  Anupama Narla; Benjamin L Ebert
Journal:  Blood       Date:  2010-03-01       Impact factor: 22.113

5.  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

Review 6.  Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications.

Authors:  Wei Wang; Subhasree Nag; Xu Zhang; Ming-Hai Wang; Hui Wang; Jianwei Zhou; Ruiwen Zhang
Journal:  Med Res Rev       Date:  2014-08-28       Impact factor: 12.944

7.  Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.

Authors:  Samantha L Hersrud; Attila D Kovács; David A Pearce
Journal:  Biochim Biophys Acta       Date:  2016-04-19

8.  SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

Authors:  Christoph Schürch; Thorsten Schaefer; Joëlle S Müller; Pauline Hanns; Marlon Arnone; Alain Dumlin; Jonas Schärer; Irmgard Sinning; Klemens Wild; Julia Skokowa; Karl Welte; Raphael Carapito; Seiamak Bahram; Martina Konantz; Claudia Lengerke
Journal:  Blood       Date:  2021-03-11       Impact factor: 22.113

Review 9.  Shwachman-Diamond syndrome.

Authors:  C Dall'oca; M Bondi; M Merlini; M Cipolli; F Lavini; P Bartolozzi
Journal:  Musculoskelet Surg       Date:  2011-12-27

Review 10.  Ribosome biogenesis in the yeast Saccharomyces cerevisiae.

Authors:  John L Woolford; Susan J Baserga
Journal:  Genetics       Date:  2013-11       Impact factor: 4.562
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