Research & Literature

Genetic Disorders of Vitamin D Metabolism: Case Series and Literature Review.

Khokhar A, Castells S, Perez-Colon S

Clinical pediatrics 2016; (55(5)):404-14 doi:10.1177/0009922815623231.

[Vitamin D dependency and its treatment].

Kitanaka S

Clinical calcium 2016; (26(2)):277-83.

CYP2R1 mutations causing vitamin D-deficiency rickets.

Thacher TD, Levine MA

The Journal of steroid biochemistry and molecular biology 2017; (173()):333-336 doi:10.1016/j.jsbmb.2016.07.014.

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Brar PC, Dingle E, Pappas J, Raisingani M

Case reports in endocrinology 2017; (2017()):3905905 doi:10.1155/2017/3905905.

Genetic Diseases of Vitamin D Metabolizing Enzymes.

Jones G, Kottler ML, Schlingmann KP

Endocrinology and metabolism clinics of North America 2017; (46(4)):1095-1117 doi:10.1016/j.ecl.2017.07.011.

[Rickets/Osteomalacia. Symptomatic vitamin D deficiency in children and its prevention and treatment.]

Kubota T

Clinical calcium 2018; (28(10)):1381-1386.

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Dursun F, Özgürhan G, Kırmızıbekmez H, et al.

Journal of clinical research in pediatric endocrinology 2019; (11(1)):34-40 doi:10.4274/jcrpe.galenos.2018.2018.0121.

Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score.

Thacher TD, Pettifor JM, Tebben PJ, et al.

Bone 2019; (122()):76-81 doi:10.1016/j.bone.2019.02.010.

Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A.

Ahmad N, Mohamed Sobaihi M, Al-Jabri M, et al.

International journal of pediatrics & adolescent medicine 2018; (5(2)):78-81 doi:10.1016/j.ijpam.2018.05.001.

Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations.

Thakur M

Journal of oral and maxillofacial pathology : JOMFP 2019; (23(Suppl 1)):130-133 doi:10.4103/jomfp.JOMFP_309_18.

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation.

Bayramoğlu E, Şavaş Erdeve Ş, Shi Y, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(6)):647-651 doi:10.1515/jpem-2018-0399.

FGF23 and Associated Disorders of Phosphate Wasting.

Gohil A, Imel EA

Pediatric endocrinology reviews : PER 2019; (17(1)):17-34 doi:10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate.

Cinacalcet treatment experience in hereditary vitamin D resistant rickets.

Lucas J, Badia JL, Lucas E, Remon A

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(2)):313-318.

Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.

Abalı S, Tamura M, Turan S, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(4)):557-562.

Diagnosis and Management of Vitamin D Dependent Rickets.

Levine MA

Frontiers in pediatrics 2020; (8()):315 doi:10.3389/fped.2020.00315.

Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report.

Liu AQ, Zhang LS, Guo H, et al.

Medicine 2020; (99(41)):e22508 doi:10.1097/MD.0000000000022508.

Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.

Al Homyani DK, Alhemaiani SK

Frontiers in endocrinology 2022; (13()):862022 doi:10.3389/fendo.2022.862022.

Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.

Brandt M, Johannsen L, Inhestern L, Bergelt C

Orphanet journal of rare diseases 2022; (17(1)):274 doi:10.1186/s13023-022-02407-5.

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Méaux MN, Harambat J, Rothenbuhler A, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(4)):812-826 doi:10.1210/clinem/dgac639.

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.

Lin Y, Guan Z, Mei H, et al.

Frontiers in pediatrics 2022; (10()):1007219 doi:10.3389/fped.2022.1007219.

Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.

Yi C, Xu J, He J, et al.

Experimental and therapeutic medicine 2022; (24(6)):762 doi:10.3892/etm.2022.11698.

Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.

Sohail E, Ahsan T, Jabeen R, et al.

JPMA. The Journal of the Pakistan Medical Association 2022; (72(12)):2528-2530 doi:10.47391/JPMA.5266.

Approach to Rickets: Is It Calciopenic or Phosphopenic?

Abseyi SN, Şıklar Z

Turkish archives of pediatrics 2023; (58(5)):458-466 doi:10.5152/TurkArchPediatr.2023.23050.

[Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism].

Manero-Azua Á, Pereda A, González Cabrera N, et al.

Medicina clinica 2023; (161(11)):493-497 doi:10.1016/j.medcli.2023.06.009.

Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.

Christensen S, Loomba LA

JCEM case reports 2023; (1(1)):luac022 doi:10.1210/jcemcr/luac022.

Nonfebrile Seizures in Pediatrics: Key Points to Remember.

Anjos MM, Figueireido AM, Cardoso P, et al.

Cureus 2024; (16(1)):e53233 doi:10.7759/cureus.53233.

Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.

Ahmad N, Ansari SA, Aleysae NA, et al.

Pediatric endocrinology, diabetes, and metabolism 2024; (30(2)):74-80 doi:10.5114/pedm.2024.139367.

Respiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.

Parmar A, Shah N, Khadse S, Ghildiyal R

BMJ case reports 2025; (18(1)) doi:10.1136/bcr-2024-262835.

Hereditary disorders of vitamin-D metabolism and its receptor.

Lainis V, Katsouli O, Gazi S, et al.

Hormones (Athens, Greece) 2025; (24(2)):335-346 doi:10.1007/s42000-025-00630-w.

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.

Tran TAT, Dien TM, Nguyen NL, et al.

Diagnostics (Basel, Switzerland) 2025; (15(7)) doi:10.3390/diagnostics15070918.

Surgical and Nonsurgical Endodontic Treatment of a Patient with Vitamin D-resistant Rickets and Extraoral Sinus Tract: A Case Report.

Clarke BC, Noblett WC, Ordinola-Zapata R, Chen AF

Journal of endodontics 2026; (52(1)):149-155 doi:10.1016/j.joen.2025.09.016.

A new metabolic path in type 3 rickets.

Senda T, Hirota Y

The FEBS journal 2026; (293(3)):656-659 doi:10.1111/febs.70382.