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Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor.

作者信息

Mellor-Heineke Sabine, Skokowa Julia, Gerschmann Natali, Deordieva Ekaterina, Tesakov Ivan, Kinsey Sally, Klaudel-Dreszler Maja, Farruggia Piero, Sukova Martina, Sundin Mikael, El Chazli Yasmine, Masmas Tania N, Willems Leen, Ebetsberger-Dachs Georg, Erichsen Hans C, Steinberg-Shemer Orna, Shcherbina Anna, Welte Karl, Zeidler Cornelia

机构信息

Department of Hematology, Oncology, Clinical Immunology, and Rheumatology, University Hospital Tübingen, Tübingen, Germany; Children's Hospital, University Hospital Mannheim, Mannheim.

Department of Hematology, Oncology, Clinical Immunology, and Rheumatology, University Hospital Tübingen, Tübingen, Germany; Gene and RNA Therapy Center (GRTC), University Hospital Tübingen, Tübingen.

出版信息

Haematologica. 2025 Sep 1;110(9):2171-2175. doi: 10.3324/haematol.2024.286119. Epub 2025 Mar 27.

DOI:
10.3324/haematol.2024.286119
PMID:40145295
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12399964/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b21/12399964/40546efd0435/1102171.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b21/12399964/9b44a2082160/1102171.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b21/12399964/40546efd0435/1102171.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b21/12399964/9b44a2082160/1102171.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b21/12399964/40546efd0435/1102171.fig2.jpg

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本文引用的文献

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Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.Shwachman-Diamond 综合征：狭窄的基因型谱和多变的临床特征。
Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23.
2
Hematologic complications with age in Shwachman-Diamond syndrome.Shwachman-Diamond 综合征患者的血液学并发症与年龄相关。
Blood Adv. 2022 Jan 11;6(1):297-306. doi: 10.1182/bloodadvances.2021005539.
3
Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome.施瓦赫曼-戴蒙德综合征的造血干细胞移植
Biol Blood Marrow Transplant. 2020 Aug;26(8):1446-1451. doi: 10.1016/j.bbmt.2020.04.029. Epub 2020 May 16.
4
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.一项意大利 Shwachman-Diamond 综合征患者血液学并发症和长期生存的前瞻性研究。
J Pediatr. 2020 Apr;219:196-201.e1. doi: 10.1016/j.jpeds.2019.12.041. Epub 2020 Feb 6.
5
Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.施瓦茨曼-戴蒙德综合征合并骨髓增生异常综合征或急性髓系白血病患者的临床特征及预后：一项多中心、回顾性队列研究
Lancet Haematol. 2020 Mar;7(3):e238-e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23.
6
Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan.舒-戴综合征：日本全国性调查与系统评价
Pediatr Int. 2018 Aug;60(8):719-726. doi: 10.1111/ped.13601. Epub 2018 Jul 10.
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The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.希腊舒-戴综合征注册登记处：分子与临床数据。
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