Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Congenital sideroblastic anaemia"'
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 3, Pp 179-181 (2023)
Background: Congenital sideroblastic anemias (CSAs) are a rare inherited group of anemias. They are usually syndromic with neuromuscular and metabolic phenotypes. We report a child with sideroblastic anemia with the rare association of extrahepatic b
Externí odkaz:
https://doaj.org/article/f07a638563e64aeca71414512e1579b1
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
X-linked sideroblastic anaemia (XLSA) is an inherited disorder caused by mutations in genes encoding proteins involved in the biosynthesis of haem. The pathogenic gene, as well as the pathogenesis and diagnosis of XLSA, have been fully elucidated in
Externí odkaz:
https://doaj.org/article/3c122e4c7cc94957be8a4ff850b94406
Akademický článek
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Autor:
Guy Leverger, Marie-Amelyne Le Rouzic, Christian Rose, Laila Hessissen, Nadja Jäkel, Bertrand Isidor, Stéphane Ducassou, Patrick Lutz, Sophie Bayart, Cyrielle Fouquet, Mony Fahd, Emmanuelle Bourrat, Marlène Pasquet, Fanny Fouyssac, Mohamed Touati, Isabelle Thuret, Thierry Leblanc, Christiane Vermylen, Ralf Knoefler, Sandrine Marlin, Thomas Matthes, Valerie Triolo, Emmanuel Raffoux, Jean-Pierre Vannier, Caroline Kannengiesser
Publikováno v:
British Journal of Haematology, Vol. 187, No 4 (2019) pp. 530-542
Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36a3a4908a5cb18f92b6d48bb9fd795
https://doi.org/10.1111/bjh.16100
https://doi.org/10.1111/bjh.16100
Publikováno v:
UK Children’s Cancer and Leukaemia Group British Paediatric Haematology Group.
A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she was noted to have frontal skull bossing and an increase in her head circumference from the 50th to the 98th centile. She was developing normally and was neurologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6b0059f7a61d309ebbc5d5c33488281
https://doi.org/10.1136/archdischild-2017-313087.107
https://doi.org/10.1136/archdischild-2017-313087.107
Akademický článek
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Publikováno v:
International Journal of Hematology, 94, 97-100
International Journal of Hematology, 94, 1, pp. 97-100
International Journal of Hematology, 94, 1, pp. 97-100
Contains fulltext : 98140.pdf (Publisher’s version ) (Closed access) We present a patient with iron overload, who was initially diagnosed with hereditary haemochromatosis. Family analysis, however, established that the iron overload was secondary t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2f04d4017a1d909b7ff3174f3e085a
https://doi.org/10.1007/s12185-011-0875-y
https://doi.org/10.1007/s12185-011-0875-y
Autor:
Edward J. Fitzsimons, Alison May
Publikováno v:
Baillière's Clinical Haematology. 7:851-879
Summary The startling morphological abnormalities of sideroblastic anaemia contrasts our uncertainty about its cause. Studies are hampered by the fact that the abnormality resides in the dividing and differentiating erythroblast which is difficult to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01a1174fcd2a8bfb6bc421c8410443bc
https://doi.org/10.1016/s0950-3536(05)80128-3
https://doi.org/10.1016/s0950-3536(05)80128-3
Publikováno v:
British Journal of Haematology. 166:469-469
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3c7e18a70e7e190416a78d4c026d5a
https://doi.org/10.1111/bjh.12952
https://doi.org/10.1111/bjh.12952