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Items: 1 to 20 of 23

1.
85例低血磷性佝偻病患儿诊断、治疗与随访的回顾性研究
李 海琦, 陈 秋霞, 车 若琛, 郑 必霞, 张 爱华, 陈 颖
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Jul 15; 26(7): 677–682. Chinese. doi: 10.7499/j.issn.1008-8830.2312013
PMCID:
PMC11562038
ArticlePDF–683K
2.
Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Noman Ahmad, Sundus A. Ansari, Nabil A. Aleysae, Emily L.G. Heaphy, Mrouge M. Sobaihi, Balgees A. Alghamdi, Ali S. Alzahrani
Pediatr Endocrinol Diabetes Metab. 2024 Jun; 30(2): 74–80. Published online 2024 May 3. doi: 10.5114/pedm.2024.139367
PMCID:
PMC11249798
ArticlePDF–906K
3.
Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms
Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Juan R. Muñoz-Castañeda, Agustín Lahoz, Julio Hernández-Jaras
Int J Mol Sci. 2024 Mar; 25(6): 3545. Published online 2024 Mar 21. doi: 10.3390/ijms25063545
PMCID:
PMC10971556
ArticlePDF–1.2M
4.
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
A. Bosman, N. M. Appelman-Dijkstra, A. M. Boot, M. H. de Borst, A. C. van de Ven, R. T. de Jongh, A. Bökenkamp, J. P. van den Bergh, B. C. J. van der Eerden, M. C. Zillikens
Calcif Tissue Int. 2024; 114(3): 255–266. Published online 2024 Jan 16. doi: 10.1007/s00223-023-01172-2
PMCID:
PMC10901935
ArticlePDF–698K
5.
Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts
Maria Helena Vaisbich, Antônio César Paulillo de Cillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino de Carvalho, Juliana M. C. M. de Almeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. da Silva, Paula Frassinetti V. de Medeiros, Pedro Henrique Mendes
Mol Genet Genomic Med. 2024 Feb; 12(2): e2387. Published online 2024 Feb 9. doi: 10.1002/mgg3.2387
PMCID:
PMC10858313
ArticlePDF–2.2M
6.
FGF23 directly inhibits osteoprogenitor differentiation in Dmp1-knockout mice
Guillaume Courbon, Dominik Kentrup, Jane Joy Thomas, Xueyan Wang, Hao-Hsuan Tsai, Jadeah Spindler, John Von Drasek, Laura Mazudie Ndjonko, Marta Martinez-Calle, Sana Lynch, Lauriane Hivert, Xiaofang Wang, Wenhan Chang, Jian Q. Feng, Valentin David, Aline Martin
JCI Insight. 2023 Dec 22; 8(24): e156850. Published online 2023 Dec 22. doi: 10.1172/jci.insight.156850
PMCID:
PMC10807721
ArticlePDF–5.7M
7.
Rickets guidance: part II—management
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Pediatr Nephrol. 2022; 37(10): 2289–2302. Published online 2022 Mar 29. doi: 10.1007/s00467-022-05505-5
PMCID:
PMC9395459
ArticlePDF–784K
8.
Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries
Fahad Al Juraibah, Elham Al Amiri, Mohammed Al Dubayee, Jamal Al Jubeh, Hessa Al Kandari, Afaf Al Sagheir, Adnan Al Shaikh, Salem A. Beshyah, Asma Deeb, Abdelhadi Habeb, Manal Mustafa, Hanaa Zidan, M. Zulf Mughal
Arch Osteoporos. 2021; 16(1): 52. Published online 2021 Mar 4. doi: 10.1007/s11657-021-00879-9
PMCID:
PMC7929956
ArticlePDF–612K
9.
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos, RenalTubeGroup
Orphanet J Rare Dis. 2021; 16: 104. Published online 2021 Feb 27. doi: 10.1186/s13023-021-01729-0
Correction in:
Orphanet J Rare Dis. 2021; 16: 154.
PMCID:
PMC7912818
ArticlePDF–1.2M
10.
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Anupam Kotwal, Alejandro Ferrer, Rajiv Kumar, Ravinder J Singh, Vishakantha Murthy, Laura Schultz-Rogers, Michael Zimmermann, Brendan Lanpher, Kristin Zimmerman, Paul R Stabach, Eric Klee, Demetrios T Braddock, Robert A Wermers
J Bone Miner Res. Author manuscript; available in PMC 2020 Dec 29.
Published in final edited form as: J Bone Miner Res. 2020 Apr; 35(4): 662–670. Published online 2020 Jan 16. doi: 10.1002/jbmr.3938
PMCID:
PMC7771569
ArticlePDF–1.4M
11.
Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family
Feifei Wang, Jia Hu, Chao Mei, Xia Lin, Ling Zhang
Medicine (Baltimore) 2020 Aug 28; 99(35): e21940. Published online 2020 Aug 28. doi: 10.1097/MD.0000000000021940
PMCID:
PMC7458196
ArticlePDF–688K
12.
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner, Francesco Emma, Deborah M. Eastwood, Martin Biosse Duplan, Justine Bacchetta, Dirk Schnabel, Philippe Wicart, Detlef Bockenhauer, Fernando Santos, Elena Levtchenko, Pol Harvengt, Martha Kirchhoff, Federico Di Rocco, Catherine Chaussain, Maria Louisa Brandi, Lars Savendahl, Karine Briot, Peter Kamenicky, Lars Rejnmark, Agnès Linglart
Nat Rev Nephrol. 2019; 15(7): 435–455. Published online 2019 May 8. doi: 10.1038/s41581-019-0152-5
PMCID:
PMC7136170
ArticlePDF–1.5M
13.
FGF23 and Associated Disorders of Phosphate Wasting
Anisha Gohil, Erik A. Imel
Pediatr Endocrinol Rev. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Pediatr Endocrinol Rev. 2019 Sep; 17(1): 17–34. doi: 10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate
PMCID:
PMC7040960
ArticlePDF–597K
14.
X-linked hypophosphatemic rickets: an Italian experts’ opinion survey
F. Emma, M. Cappa, F. Antoniazzi, M. L. Bianchi, I. Chiodini, C. Eller Vainicher, N. Di Iorgi, M. Maghnie, A. Cassio, A. Balsamo, F. Baronio, L. de Sanctis, D. Tessaris, G. I. Baroncelli, S. Mora, M. L. Brandi, G. Weber, A. D’Ausilio, E. P. Lanati
Ital J Pediatr. 2019; 45: 67. Published online 2019 May 31. doi: 10.1186/s13052-019-0654-6
PMCID:
PMC6545008
ArticlePDF–613K
15.
Fibroblast growth factor 23 does not directly influence skeletal muscle cell proliferation and differentiation or ex vivo muscle contractility
Keith G. Avin, Julian A. Vallejo, Neal X. Chen, Kun Wang, Chad D. Touchberry, Marco Brotto, Sarah L. Dallas, Sharon M. Moe, Michael J. Wacker
Am J Physiol Endocrinol Metab. 2018 Oct 1; 315(4): E594–E604. Published online 2018 Feb 20. doi: 10.1152/ajpendo.00343.2017
PMCID:
PMC6230710
Article
16.
Hypercalcemic Disorders in Children
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
J Bone Miner Res. 2017 Nov; 32(11): 2157–2170. Published online 2017 Nov 2. doi: 10.1002/jbmr.3296
PMCID:
PMC5703166
ArticlePDF–520K
17.
1,25-dihydroxyvitamin D alone improves Skeletal Growth, Microarchitecture and Strength in a Murine model of XLH, despite enhanced FGF23 expression
Eva S. Liu, Janaina S. Martins, Adalbert Raimann, Byongsoo Timothy Chae, Daniel J. Brooks, Vanda Jorgetti, Mary L. Bouxsein, Marie B. Demay
J Bone Miner Res. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: J Bone Miner Res. 2016 May; 31(5): 929–939. Published online 2016 Feb 2. doi: 10.1002/jbmr.2783
PMCID:
PMC4862933
ArticlePDF–1.1M
18.
The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D3
Seong Min Lee, J. Wesley Pike
J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: J Steroid Biochem Mol Biol. 2016 Nov; 164: 265–270. Published online 2015 Aug 29. doi: 10.1016/j.jsbmb.2015.08.018
PMCID:
PMC4769962
ArticlePDF–756K
19.
Vitamin D Receptor Mutations in Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Peter J. Malloy, Velibor Tasic, Doris Taha, Filiz Tütüncüler, Goh Siok Ying, Loke Kah Yin, Jining Wang, David Feldman
Mol Genet Metab. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Mol Genet Metab. 2014 Jan; 111(1): 33–40. Published online 2013 Nov 4. doi: 10.1016/j.ymgme.2013.10.014
PMCID:
PMC3933290
ArticlePDF–518K
20.
The Role of Vitamin D Receptor Mutations in the Development of Alopecia
Peter J. Malloy, David Feldman
Mol Cell Endocrinol. Author manuscript; available in PMC 2012 Dec 5.
Published in final edited form as: Mol Cell Endocrinol. 2011 Dec 5; 347(1-2): 90–96. Published online 2011 Jun 13. doi: 10.1016/j.mce.2011.05.045
PMCID:
PMC3196847
ArticlePDF–463K

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