Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference22 articles.
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2. Improved growth velocity during thyroid hormone therapy in children with Fanconi anemia and borderline thyroid function;Eyal;Pediatr Blood Cancer,2008
3. Endocrine phenotype of children and adults with Fanconi anemia;Rose;Pediatr Blood Cancer,2012
4. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment;Burroughs;Hematol Oncol Clin North Am,2009
5. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar;Ginzberg;J Pediatr,1999
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1. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07
2. A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia;Genetics in Medicine;2023-10
3. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature;Italian Journal of Pediatrics;2023-08-14
4. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature;2023-03-15
5. Exocrine Pancreatic Insufficiency;Textbook of Pediatric Gastroenterology, Hepatology and Nutrition;2021-11-25
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