A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges-Reference-Cited by-同舟云学术

A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges

Published:2024-07-22 Issue: Volume: Page:
ISSN:1109-3099
Container-title:Hormones
language:en
Short-container-title:Hormones

Author:

Statha Eleni,Paltoglou George,Doulgeraki Artemis,Vakali Eleni,Vlachopapadopoulou Elpis^ORCID,Economou Stavroula,Sakou Irini-Ikbale,Soldatou Alexandra,Karavanaki Kyriaki,Fryssira Elena

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s42000-024-00579-2.pdf

Reference14 articles.

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2. Demir K, Kattan WE, Zou M, Durmaz E, BinEssa H, Nalbantoglu O et al (2015) Novel CYP27B1 gene mutations in patients with vitamin D-Dependent rickets type 1A. PLoS ONE 10(7):e0131376. https://doi.org/10.1371/journal.pone.0131376

3. Levine MA (2020) Diagnosis and management of vitamin D dependent rickets. Front Pediatr 8:315. https://doi.org/10.3389/fped.2020.00315

4. Meaux MN, Harambat J, Rothenbuhler A, Leger J, Kamenicky P, Soskin S et al (2023) Genotype-phenotype description of vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease. J Clin Endocrinol Metab 108(4):812–826. https://doi.org/10.1210/clinem/dgac639

5. Ozcabi B, Tahmiscioglu Bucak F, Jaferova S, Oruc C, Adrovic A, Ceylaner S et al (2016) A case of vitamin D-Dependent rickets type 1A with a Novel mutation in the Uzbek Population. J Clin Res Pediatr Endocrinol 8(4):484–489. https://doi.org/10.4274/jcrpe.3128