Results 161 to 170 of about 2,254,317 (172)
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Blood
Background Shwachman-Diamond Syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure with a variable clinical phenotype and an increased risk for secondary hematological malignancy.
S. Mellor‐Heineke +4 more
semanticscholar +1 more source
Background Shwachman-Diamond Syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure with a variable clinical phenotype and an increased risk for secondary hematological malignancy.
S. Mellor‐Heineke +4 more
semanticscholar +1 more source
Lymphoid Malignancies in patients with Shwachman-Diamond Syndrome.
BloodThis study identified an increased risk of lymphoid malignancy in Shwachman-Diamond syndrome with an observed risk 38-fold higher than expected based on population data. Increased toxicity was observed with standard therapies in patients with SDS.
Helen D Reed +18 more
semanticscholar +1 more source
Low hematologic event-free survival with age in shwachman-diamond syndrome
BloodBackground: Shwachman Diamond syndrome (SDS) is characterized by bone marrow failure (BMF) and an increased risk of myeloid and lymphoid malignancies.
Kasiani C Myers +26 more
semanticscholar +1 more source
Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry
BloodBackground: Shwachman-Diamond Syndrome (SDS) is a ribosomopathy marked by marrow failure, exocrine pancreatic dysfunction, and leukemia predisposition.
Jane Koo +16 more
semanticscholar +1 more source
A Rare Case of Shwachman-Diamond Syndrome: Diagnostic Challenges and Management
American Journal of PediatricsBackground: Rare inherited bone marrow failure syndromes pose significant diagnostic challenges in pediatric practice due to their variable and overlapping clinical presentations.
Xinyi Xu, Yihui Huang
semanticscholar +1 more source
Voprosy detskoj dietologii
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder caused by pathogenic variants in the SBDS gene and characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, growth delay, and skeletal abnormalities. Objective.
M. Ipatova, P. V. Shumilov
semanticscholar +1 more source
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder caused by pathogenic variants in the SBDS gene and characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, growth delay, and skeletal abnormalities. Objective.
M. Ipatova, P. V. Shumilov
semanticscholar +1 more source
Correction of nutrient deficiencies in children with Shwachman–Diamond syndrome
Voprosy detskoj dietologiiShwachman–Diamond syndrome (SDS) is a rare genetic ribosomopathy caused by impaired hematopoiesis, exocrine pancreatic insufficiency, delayed puberty, and skeletal abnormalities. Objective.
M. Ipatova
semanticscholar +1 more source
Mutations in SBDS are associated with Shwachman–Diamond syndrome
Nature Genetics, 2003G. Boocock +6 more
semanticscholar +1 more source