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Publications and Diagnostic & Treatment Guidelines

Key Publications
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Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. 

Dror Y, Donadieu J, Koglmeier J, et al.

Ann N Y Acad Sci. 2011;1242:40–55. doi:10.1111/j.1749-6632.2011.06349.x

The purpose of this document is to provide guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management arepresented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based onthe consensus of experienced clinicians from Canada, Europe, and the United States.

Shwachman-Diamond Syndrome

Adam Nelson, MBBS and Kasiani Myers, MD.

GeneReviews [], an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. © 1993-2020 University of Washington

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Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

Reilly CR, Shimamura A.

Blood. 2023 Mar 30;141(13):1513-1523.

doi: 10.1182/blood.2022017739.

PMID: 36542827 

Free article.

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[in French] Protocole National de Diagnostic et de Soins Maladie de Shwachman Diamond

Mars 2023
Coordination : Centre de référence Maladies Rares : Neutropénies Chroniques
Aurelia Alimi & Jean Donadieu

Available at

Free document

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We regret to inform you that the QUOSA's copyright-compliant platform we used will be retired in Q3 2023. While we are transitioning to a new tool, please email us at if you need assistance accessing any SDS related publications.

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