Beyond Cystic Fibrosis: Recognising Shwachman‐Diamond Syndrome in the Respiratory Clinic [PDF]
Respirology Case ReportsCystic fibrosis (CF) and Shwachman‐Diamond Syndrome (SDS) share overlapping features, including recurrent respiratory infections and pancreatic insufficiency, which can complicate diagnosis.
Freda Yang +3 more
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Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review [PDF]
BMC Pediatrics, 2023 Background Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed
Xue Han +5 more
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Constitutive systemic inflammation in Shwachman-Diamond Syndrome [PDF]
Molecular MedicineBackground and purpose Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disease belonging to the inherited bone marrow failure syndromes and characterized by hypocellular bone marrow, exocrine pancreatic insufficiency, and skeletal ...
Giuseppe Sabbioni +13 more
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Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome [PDF]
The Journal of Clinical InvestigationShwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency, and bony abnormalities with an increased risk of myeloid neoplasia.
Usua Oyarbide +7 more
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Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature [PDF]
Italian Journal of Pediatrics, 2023 Background Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure.
Lusine V. Navasardyan +5 more
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Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review [PDF]
Pharmacogenomics and Personalized Medicine, 2022 Hang Yu,1,* Wenwei Zhao,2,* Yongqing Ni,1,* Linlin Li1,* 1Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, 010030, People’s Republic of China; 2Office of the ...
Yu H, Zhao W, Ni Y, Li L
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Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome [PDF]
Frontiers in PediatricsShwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, metaphyseal chondrodysplasia, and bone marrow failure.
Chenyang Chang +17 more
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Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series [PDF]
Nature CommunicationsShwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a
Valentino Bezzerri +19 more
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Nature Communications, 2021 Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in ...
Alyssa L. Kennedy +42 more
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Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome [PDF]
Haematologica, 2012 Background Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified.
Jean Donadieu +20 more
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