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Journal Abstract Search

406 related items for PubMed ID: 21745613

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  • 3. [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
    Liu ZQ, Chen XB, Song FY, Gao K, Qiu MF, Qian Y, Du M.
    Zhonghua Er Ke Za Zhi; 2017 Nov 02; 55(11):858-861. PubMed ID: 29141319
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  • 6. Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
    Kinoshita Y, Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujita T.
    Eur J Endocrinol; 2012 Aug 02; 167(2):165-72. PubMed ID: 22577109
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  • 7. A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
    Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.
    J Cell Biochem; 2012 Jul 02; 113(7):2432-41. PubMed ID: 22573557
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  • 8. Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.
    Kato H, Ansh AJ, Lester ER, Kinoshita Y, Hidaka N, Hoshino Y, Koga M, Taniguchi Y, Uchida T, Yamaguchi H, Niida Y, Nakazato M, Nangaku M, Makita N, Takamura T, Saito T, Braddock DT, Ito N.
    J Bone Miner Res; 2022 Jun 02; 37(6):1125-1135. PubMed ID: 35340077
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  • 9. 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 Jun 02; 13():911672. PubMed ID: 35966073
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  • 10. 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 02; 153():116111. PubMed ID: 34252603
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  • 11. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
    Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X.
    Calcif Tissue Int; 2007 Dec 02; 81(6):415-20. PubMed ID: 18046499
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  • 12. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
    Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT.
    Bone; 2021 Jan 02; 142():115656. PubMed ID: 32980560
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  • 13. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
    Kienitz T, Ventz M, Kaminsky E, Quinkler M.
    Exp Clin Endocrinol Diabetes; 2011 Jul 02; 119(7):431-5. PubMed ID: 21553362
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  • 14. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.
    Capelli S, Donghi V, Maruca K, Vezzoli G, Corbetta S, Brandi ML, Mora S, Weber G.
    Bone; 2015 Oct 02; 79():143-9. PubMed ID: 26051471
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  • 15. X-linked hypophosphatemic rickets and craniosynostosis.
    Murthy AS.
    J Craniofac Surg; 2009 Mar 02; 20(2):439-42. PubMed ID: 19242361
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  • 16. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.
    Quarles LD.
    Am J Physiol Endocrinol Metab; 2003 Jul 02; 285(1):E1-9. PubMed ID: 12791601
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  • 17. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
    BinEssa HA, Zou M, Al-Enezi AF, Alomrani B, Al-Faham MSA, Al-Rijjal RA, Meyer BF, Shi Y.
    Bone; 2019 Aug 02; 125():186-193. PubMed ID: 31102713
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  • 18. A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.
    Kawahara T, Watanabe H, Omae R, Yamamoto T, Inazu T.
    Case Rep Genet; 2015 Aug 02; 2015():301264. PubMed ID: 25861491
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  • 19. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.
    Razali NN, Hwu TT, Thilakavathy K.
    J Pediatr Endocrinol Metab; 2015 Sep 02; 28(9-10):1009-17. PubMed ID: 25894638
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  • 20. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.
    Imel EA, Hui SL, Econs MJ.
    J Bone Miner Res; 2007 Apr 02; 22(4):520-6. PubMed ID: 17227222
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