Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10496713" target="_blank" >RIV/00064203:_____/25:10496713 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10496713
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8tldGBvjLW" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8tldGBvjLW</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3324/haematol.2024.286119" target="_blank" >10.3324/haematol.2024.286119</a>
Alternative languages
Result language
angličtina
Original language name
Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor
Original language description
Shwachman Diamond syndrome (SDS) is a rare disorder characterized by exocrinepancreatic insufficiency, bone marrow failure (BMF), congenital abnormalities including theskeleton and a varying degree of neurodevelopmental delay). Patients have apredisposition for myeloid malignancies (myelodysplastic syndrome (MDS) and acutemyeloid leukemia (AML)).Our current study has shown that despite of genetic homogeneity, there arevariable clinical and hematological phenotypes in SDS patients. There is an increasing risk ofbone marrow failure with age. G-CSF therapy does not increase the risk of developingMDS/leukemia and is therefore safe to use in SDS patients with severe neutropenia.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Haematologica
ISSN
0390-6078
e-ISSN
1592-8721
Volume of the periodical
110
Issue of the periodical within the volume
9
Country of publishing house
IT - ITALY
Number of pages
5
Pages from-to
2171-2175
UT code for WoS article
001573786100028
EID of the result in the Scopus database
2-s2.0-105014651855