Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry-Reference-Cited by-同舟云学术

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Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

Published:2014-04 Issue:4 Volume:164 Page:866-870
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Myers Kasiani C.,Bolyard Audrey Anna,Otto Barbara,Wong Trisha E.,Jones Amanda T.,Harris Richard E.,Davies Stella M.,Dale David C.,Shimamura Akiko

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Clinical and molecular pathophysiology of Shwachman–Diamond Syndrome: an update;Myers;Hematol. Oncol Clin North Am,2013

2. The Shwachman–Bodian–Diamond Syndrome protein mediates translational activation of ribosomes in yeast;Menne;Nat Genet,2007

3. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman–Diamond Syndrome;Finch;Genes Dev,2011

4. The human Shwachman–Diamond Syndrome protein, SBDS, associates with ribosomal RNA;Ganapathi;Blood,2007

5. Draft consensus guidelines for diagnosis and treatment of Shwachman–Diamond Syndrome;Dror;Ann NY Acad Sci,2011

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3. From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development;Clinical Pharmacology & Therapeutics;2024-07-22

4. The Paradox of Ribosomal Insufficiency Coupled with Increased Cancer: Shifting the Perspective from the Cancer Cell to the Microenvironment;Cancers;2024-06-28

5. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07

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