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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
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.
PMID:36315908
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