Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C.
Bone. 2021 Dec;153:116111. doi: 10.1016/j.bone.2021.116111. Epub 2021 Jul 9.
Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).
Edouard T, Linglart A.
Arch Pediatr. 2024 Sep;31(4S1):4S27-4S32. doi: 10.1016/S0929-693X(24)00154-4.
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S.
Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97.
Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).
Bai X, Levental M, Karaplis AC.
J Clin Endocrinol Metab. 2022 Sep 28;107(10):2777-2783. doi: 10.1210/clinem/dgac433.
Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.
Choe Y, Shin CH, Lee YA, Kim MJ, Lee YJ.
Front Endocrinol (Lausanne). 2022 Jul 29;13:911672. doi: 10.3389/fendo.2022.911672. eCollection 2022.
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.
Bitkin EÇ, Aymelek HS.
Turk J Pediatr. 2022;64(3):585-591. doi: 10.24953/turkjped.2021.829.
Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl.
Lin HY, Lee NC, Melody Tsai MJ, Wang TM, Tung YC.
J Clin Res Pediatr Endocrinol. 2024 Jul 16. doi: 10.4274/jcrpe.galenos.2024.2024-3-8. Online ahead of print.
First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.
Bastida G, Ramírez F, Exeni G, Costa M, Ávila SA.
Arch Argent Pediatr. 2023 Apr 1;121(2):e202202682. doi: 10.5546/aap.2022-02682.eng. Epub 2022 Nov 3.
Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.
Ni X, Li X, Zhang Q, Liu C, Gong Y, Wang O, Li M, Xing X, Jiang Y, Xia W.
Calcif Tissue Int. 2020 Dec;107(6):636-648. doi: 10.1007/s00223-020-00755-7. Epub 2020 Sep 12.
Osteocytes and the pathogenesis of hypophosphatemic rickets.
Yamazaki M, Michigami T.
Front Endocrinol (Lausanne). 2022 Sep 29;13:1005189. doi: 10.3389/fendo.2022.1005189. eCollection 2022.
