Article

Ataluren Treatment Improves Hematopoietic and Pancreatic Disorders in Patients with Shwachman-Diamond Syndrome

2024-11-04

Abstract excerpt

<title>Abstract</title> <p>Shwachman-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 (<italic>SBDS)</italic>, which encodes a ribosome assembly factor. We investigated the translational read-through effect of ataluren in three patients with SD...

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Literature Corpus work: 6c429139-6a35-567c-8a8c-60d45ffd6d36
DOI: 10.21203/rs.3.rs-5231941/v1

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