Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort-Reference-Cited by-同舟云学术

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Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

Published:2019-07-23 Issue:4 Volume:187 Page:530-542
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Fouquet Cyrielle¹^ORCID,Le Rouzic Marie‐Amelyne²,Leblanc Thierry³,Fouyssac Fanny²,Leverger Guy⁴,Hessissen Laila⁵,Marlin Sandrine⁶,Bourrat Emmanuelle⁷,Fahd Mony³,Raffoux Emmanuel⁷,Vannier Jean‐Pierre⁸,Jäkel Nadja⁹,Knoefler Ralf¹⁰,Triolo Valerie¹¹,Pasquet Marlene¹²,Bayart Sophie¹³,Thuret Isabelle¹⁴,Lutz Patrick¹⁵,Vermylen Christiane¹⁶,Touati Mohamed¹⁷,Rose Christian¹⁸,Matthes Thomas¹⁹,Isidor Bertrand²⁰,Kannengiesser Caroline²¹,Ducassou Stephane¹^ORCID

Affiliation:

1. CHU de Bordeaux Hôpital Pellegrin Bordeaux France

2. CHU de Nancy Hôpital Brabois Vandoeuvre France

3. CHU de Paris Hôpital Robert Debré Paris France

4. CHU de Paris Hôpital Armand Trousseau Paris France

5. CHU Souissi Rabat Maroc

6. CHU de Paris Hôpital Necker‐Enfants maladies Paris France

7. CHU de Paris Hôpital Saint‐Louis Paris France

8. CHU de Rouen Hôpital Charles Nicolle Rouen France

9. Department für Hämatologie Onkologie und Hämostaseologie Leipzig Germany

10. Department of Pediatric Haemostaseology University Hospital Carl Gustav Carus Dresden Germany

11. CHU de Nice Hôpital Lenval Nice France

12. CHU de Toulouse Hôpital des enfants Toulouse France

13. CHU de Rennes Hôpital Pontchaillou Rennes France

14. CHU de Marseille Hôpital de la Timone Marseille France

15. CHU de Strasbourg Hôpital de Hautepierre Strasbourg France

16. Université Catholique de Louvain, Cliniques universitaires Saint‐Luc Brussels Belgium

17. CHU de Limoges Hôpital Dupuytren Limoges France

18. CHU de Lille Hôpital Saint Vincent de Paul Lille France

19. Geneva University Hospital, Hematology Service Geneva Switzerland

20. CHU de Nantes, Hôtel Dieu Nantes France

21. Assistance Publique des Hôpitaux de Paris, Département de Génétique Hôpital Bichat, Université Paris VII Paris France

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16100

Reference52 articles.

1. Sideroblastic Anemia with Splenic Abscess and Fatal Thromboemboli after Splenectomy

2. Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

3. Thiamine transporter mutation: an example of monogenic diabetes mellitus

4. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload

5. Iron overload is a determinant of morbidity and mortality in adult patients with sickle cell disease

Cited by 17 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. Two novel variants in the SLC25A38 gene among two Iranian families with congenital sideroblastic anemia;Human Gene;2024-02

2. Spontaneous, simultaneous bilateral osteonecrosis of the femoral heads in a patient with sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay syndrome;BMJ Case Reports;2023-05

3. Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review;Frontiers in Pediatrics;2023-03-02

4. Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD);Journal of Clinical Immunology;2023-02-02

5. Diagnóstico de una anemia;EMC - Pediatría;2022-12

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