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Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301722 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to …
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction w …
Shwachman-Diamond Syndrome.
Farooqui SM, Ward R, Aziz M. Farooqui SM, et al. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 29939643 Free Books & Documents.
Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common genetic cause of exocrine pancreatic insufficiency after cystic fibrosis. ...However, cardiac abnormalities, immune dysfunction, and hematologic disorders are …
Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common genetic cause of ex …
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR, Shimamura A. Reilly CR, et al. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. Blood. 2023. PMID: 36542827 Free PMC article. Review.
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. ...Here, we review the clinical, genetic, and biologic features …
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic …
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P. Dall'oca C, et al. Musculoskelet Surg. 2012 Aug;96(2):81-8. doi: 10.1007/s12306-011-0174-z. Epub 2011 Dec 27. Musculoskelet Surg. 2012. PMID: 22201042 Review.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. ...Some patients may develop myeloblastic syndrome and acute myeloblastic leukemia. T …
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, …
Shwachman-Diamond syndrome.
Dror Y. Dror Y. Pediatr Blood Cancer. 2005 Dec;45(7):892-901. doi: 10.1002/pbc.20478. Pediatr Blood Cancer. 2005. PMID: 16047374 Review.
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the pat …
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysf …
Shwachman-Diamond syndrome.
Shimamura A. Shimamura A. Semin Hematol. 2006 Jul;43(3):178-88. doi: 10.1053/j.seminhematol.2006.04.006. Semin Hematol. 2006. PMID: 16822460 Review.
Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocrine pancreatic insufficiency and leukemia predisposition. ...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocri …
Shwachman-Diamond syndrome.
Smith OP. Smith OP. Semin Hematol. 2002 Apr;39(2):95-102. doi: 10.1053/shem.2002.31915. Semin Hematol. 2002. PMID: 11957191 Review.
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. ...No unifying …
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usu …
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. ...IMPACT: The clinical and genetic spectrum of Sh …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome …
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V, Cipolli M. Bezzerri V, et al. Mol Diagn Ther. 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. Mol Diagn Ther. 2019. PMID: 30413969 Review.
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. ...Almost 15-20% of patients with SDS present myelodysplastic syndrome with …
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman- …
Constitutive systemic inflammation in Shwachman-Diamond Syndrome.
Sabbioni G, D'Aversa E, Breveglieri G, Altieri MT, Boni C, Pegoraro A, Finotti A, Gambari R, D'Amico G, Vella A, Lippi G, Cipolli M, Bezzerri V, Borgatti M. Sabbioni G, et al. Mol Med. 2025 Feb 28;31(1):81. doi: 10.1186/s10020-025-01133-5. Mol Med. 2025. PMID: 40021961 Free PMC article.
BACKGROUND 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 abnormali …
BACKGROUND AND PURPOSE: Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disease belonging to the inhe …
296 results