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PubMed This is a summary of 21 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 21 referenced papers

References

References (21)
  1. 1

    Ghosal Type Hematodiaphyseal Dysplasia.

    Jeevan A, Doyard M, Kabra M, et al.

    Indian pediatrics 2016; (53(4)):347-8 doi:10.1007/s13312-016-0851-y.

    PMID: 27156553
  2. 2

    Frequency and Duration of Adrenal Suppression Following Glucocorticoid Therapy in Children With Rheumatic Diseases.

    Ahmet A, Brienza V, Tran A, et al.

    Arthritis care & research 2017; (69(8)):1224-1230 doi:10.1002/acr.23123.

    PMID: 27723273
  3. 3

    2017 American College of Rheumatology Guideline for the Prevention and Treatment of Glucocorticoid-Induced Osteoporosis.

    Buckley L, Guyatt G, Fink HA, et al.

    Arthritis care & research 2017; (69(8)):1095-1110 doi:10.1002/acr.23279.

    PMID: 28585410
  4. 4

    Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.

    Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G

    Pediatric blood & cancer 2018; (65(1)) doi:10.1002/pbc.26777.

    PMID: 28868793
  5. 5

    A systematic review of the safety and efficacy of systemic corticosteroids in atopic dermatitis.

    Yu SH, Drucker AM, Lebwohl M, Silverberg JI

    Journal of the American Academy of Dermatology 2018; (78(4)):733-740.e11 doi:10.1016/j.jaad.2017.09.074.

    PMID: 29032119
  6. 6

    Transfusion Volume for Children with Severe Anemia in Africa.

    Maitland K, Olupot-Olupot P, Kiguli S, et al.

    The New England journal of medicine 2019; (381(5)):420-431 doi:10.1056/NEJMoa1900100.

    PMID: 31365800
  7. 7

    Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings.

    Ciftciler R, Buyukasık Y, Saglam EA, Haznedaroglu IC

    Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019; (58(4)):449-452 doi:10.1016/j.transci.2019.04.027.

    PMID: 31395426
  8. 8

    Ghosal Hematodiaphyseal Dysplasia: A Case Report.

    Shakiba M, Shamsian S, Malekzadeh H, Yasaei M

    International journal of hematology-oncology and stem cell research 2020; (14(2)):127-129.

    PMID: 32461797
  9. 9

    Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

    Kim SY, Ing A, Gong S, et al.

    Molecular genetics & genomic medicine 2021; (9(3)):e1494 doi:10.1002/mgg3.1494.

    PMID: 33595912
  10. 10

    Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

    Brown TJ, Barrett N, Meng H, et al.

    Blood 2023; (141(13)):1553-1559 doi:10.1182/blood.2022018667.

    PMID: 36574346
  11. 11

    Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.

    Sharma P, Bhatia P, Singh M, et al.

    Gene 2024; (895()):147981 doi:10.1016/j.gene.2023.147981.

    PMID: 37951373
  12. 12

    Glucocorticoid prescribing in neurology.

    Jones AP, Debono M, Walsh J, et al.

    Practical neurology 2024; (24(4)):289-295 doi:10.1136/pn-2023-003855.

    PMID: 38553045
  13. 13

    Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.

    Ravikumar DB, Sivasubramanian BP, Thungala S, et al.

    Radiology case reports 2024; (19(10)):4578-4582 doi:10.1016/j.radcr.2024.07.028.

    PMID: 39220787
  14. 14

    Steroid-responsive anemia with bony dysplasias: What lurks behind!

    Khandelwal S, Khurana R, Kanvinde P, et al.

    Journal of tropical pediatrics 2024; (70(5)) doi:10.1093/tropej/fmae028.

    PMID: 39277773
  15. 15

    Glucocorticoid treatment and adrenal suppression in children: current view and open issues.

    Improda N, Chioma L, Capalbo D, et al.

    Journal of endocrinological investigation 2025; (48(1)):37-52 doi:10.1007/s40618-024-02461-9.

    PMID: 39352628
  16. 16

    Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

    Uludağ Alkaya D, Usluer E, Alp Ünkar Z, et al.

    Calcified tissue international 2025; (116(1)):59 doi:10.1007/s00223-025-01366-w.

    PMID: 40198394
  17. 17

    TBXAS1 deficiency causes autoinflammation responsive to IL-6 inhibitor.

    Liu L, Wang J, Ding Y, et al.

    Annals of the rheumatic diseases 2026; (85(4)):704-714 doi:10.1016/j.ard.2025.09.014.

    PMID: 41162285
  18. 18

    Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

    Zamora-Cánovas A, Marín-Quílez A, Díaz-Ajenjo L, et al.

    Biomolecules 2025; (15(12)) doi:10.3390/biom15121639.

    PMID: 41463295
  19. 19

    Rare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.

    Baby EP, Verma S, Bhagel A, et al.

    Cureus 2025; (17(12)):e99572 doi:10.7759/cureus.99572.

    PMID: 41561227
  20. 20

    Morbid iatrogenic epistaxis in a child with undiagnosed hematological malignancy: a case report.

    Liganga T, Karuga EG

    Journal of surgical case reports 2026; (2026(2)):rjag050 doi:10.1093/jscr/rjag050.

    PMID: 41664663
  21. 21

    Ghosal Hematodiaphyseal Dysplasia: A Case Report With Review of Genetically Confirmed Cases.

    Dikme G, Karkucak M, Topçu FS, Bozkurt C

    Journal of pediatric hematology/oncology 2026; (48(5)):e189-e195 doi:10.1097/MPH.0000000000003208.

    PMID: 42059562