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autosomal recessive hypo-phosphatemic rickets相关文献:
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
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
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
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
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
Tumor-induced osteomalacia.
Yin Z, Du J, Yu F, Xia W.
Osteoporos Sarcopenia. 2018 Dec;4(4):119-127. doi: 10.1016/j.afos.2018.12.001. Epub 2018 Dec 12.
PMID:30775554
Hypophosphatemic rickets: diagnosis and treatment.
Bruneau H, Bergwitz C.
Arch Endocrinol Metab. 2026 Jun 1;70(3):e260044. doi: 10.20945/2359-4292-2026-0044.
PMID:42138629
Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
Ferreira CR, Hackbarth ME, Nitschke Y, Botschen U, Gafni RI, Mughal MZ, Baujat G, Schnabel D, Schou IM, Khursigara G, Reardon O, Burklow TR, Swanner K, Rutsch F.
JBMR Plus. 2025 Jan 30;9(5):ziaf019. doi: 10.1093/jbmrpl/ziaf019. eCollection 2025 May.
PMID:40176950
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
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