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autosomal recessive hypo-phosphatemic rickets相关文献:
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.
PMID:34252603
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.
PMID:39343470
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S.
Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97.
PMID:23108197
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.
PMID:35896139
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.
PMID:35966073
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.
PMID:35899574
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.
PMID:39012089
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR, Carpenter TO, Braddock DT.
Annu Rev Pathol. 2024 Jan 24;19:507-540. doi: 10.1146/annurev-pathmechdis-051222-121126. Epub 2023 Oct 23.
PMID:37871131
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.
PMID:36246908
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.
PMID:32920683
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