Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis-Reference-Cited by-同舟云学术

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Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis

Published:2017-08-22 Issue:10 Volume:5 Page:753-767
ISSN:2167-8707
Container-title:Expert Opinion on Orphan Drugs
language:en
Short-container-title:Expert Opinion on Orphan Drugs

Author:

Valli Roberto¹,Frattini Annalisa²³,Minelli Antonella⁴

Affiliation:

1. Medical Genetic Unit, Department of Medicine and Surgery, University of Insubria, Varese, Italy

2. UOS Milano, Institute of Genetics and Biomedical Research, National Research Council, Milano, Italy

3. Department of Medicine and Surgery, University of Insubria, Milano, Italy

4. Medical Genetic Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy

Publisher

Informa UK Limited

Subject

Pharmacology (medical),Health Policy,Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678707.2017.1367282

Reference97 articles.

1. The syndrome of pancreatic insufficiency and bone marrow dysfunction

2. Congenital Hypoplasia of the Exocrine Pancreas

3. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

4. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

5. Shwachman-Diamond syndrome: Report from an international conference

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development;Clinical Pharmacology & Therapeutics;2024-07-22

2. 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

3. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features;Pediatric Research;2022-03-23

4. Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman–Bodian–Diamond syndrome;Leukemia & Lymphoma;2021-06-21

5. Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype;Molecular Cytogenetics;2020-01-02

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