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Bone characteristics of autosomal dominant hypophosphatemic rickets patients
Liu, Chang, Ni, Xiaolin, Zhao, Zhen, Qi, Wenting, Jiang, Yan, Li, Mei, Wang, Ou, Xing, Xiaoping, Xia, Weibo
Published in Bone (New York, N.Y.) (01.02.2023)
Published in Bone (New York, N.Y.) (01.02.2023)
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Journal Article
Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b
Michon-Colin, Arthur, Bouderlique, Elise, Prié, Dominique, Maruani, Gérard, Nevoux, Jérôme, Briot, Karine, Courbebaisse, Marie
Published in Calcified tissue international (01.03.2024)
Published in Calcified tissue international (01.03.2024)
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Journal Article
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review
Dodamani, Manjunath Havalappa, Memon, Saba Samad, Karlekar, Manjiri, Lila, Anurag Ranjan, Khan, Mustafa, Sarathi, Vijaya, Arya, Sneha, Jamale, Tukaram, Thakare, Sayali, Patil, Virendra A., Shah, Nalini S., Bergwitz, Clemens, Bandgar, Tushar R.
Published in Calcified tissue international (01.02.2024)
Published in Calcified tissue international (01.02.2024)
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Journal Article
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation
Chimenz, R., Columbu, C., Pugliese, F., Arena, A., Bonifazi Meffe, L., Carbone, V., Concolino, D., di Filippo, L., Eller-Vainicher, C., Fischetto, R., Giannotta, AF, Giustina, A., Gori, G., Lampis, A., Monti, L., Naciu, AM, Palermo, A., Palumbo, O., Pracella, R., Rutigliano, I., Sacco, M., Salcuni, AS, Sestito, S., Tabacco, G., Vinci, G., Castori, M., Scillitani, A., Guarnieri, V.
Published in Endocrine (01.04.2025)
Published in Endocrine (01.04.2025)
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Journal Article
CYP2R1 mutations causing vitamin D-deficiency rickets
Thacher, Tom D., Levine, Michael A.
Published in The Journal of steroid biochemistry and molecular biology (01.10.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.10.2017)
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Journal Article
Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms
López-Romero, Luis Carlos, Broseta, José Jesús, Roca-Marugán, Marta, Muñoz-Castañeda, Juan R., Lahoz, Agustín, Hernández-Jaras, Julio
Published in International journal of molecular sciences (21.03.2024)
Published in International journal of molecular sciences (21.03.2024)
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Journal Article
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c
Dhir, Gauri, Li, Dong, Hakonarson, Hakon, Levine, Michael A.
Published in Bone (New York, N.Y.) (01.04.2017)
Published in Bone (New York, N.Y.) (01.04.2017)
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Journal Article
FGF23 Concentrations Vary With Disease Status in Autosomal Dominant Hypophosphatemic Rickets
Imel, Erik A, Hui, Siu L, Ecibs, Michael J
Published in Journal of bone and mineral research (01.04.2007)
Published in Journal of bone and mineral research (01.04.2007)
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Journal Article
PHEX 3′‐UTR c.231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X‐Linked Recessive Hypophosphatemic Rickets
Mumm, Steven, Huskey, Margaret, Cajic, Adela, Wollberg, Valerie, Zhang, Fan, Madson, Katherine L, Wenkert, Deborah, McAlister, William H, Gottesman, Gary S, Whyte, Michael P
Published in Journal of bone and mineral research (01.01.2015)
Published in Journal of bone and mineral research (01.01.2015)
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Journal Article
X-linked hypophosphatemic rickets: an Italian experts’ opinion survey
Emma, F., Cappa, M., Antoniazzi, F., Bianchi, M. L., Chiodini, I., Eller Vainicher, C., Di Iorgi, N., Maghnie, M., Cassio, A., Balsamo, A., Baronio, F., de Sanctis, L., Tessaris, D., Baroncelli, G. I., Mora, S., Brandi, M. L., Weber, G., D’Ausilio, A., Lanati, E. P.
Published in Italian journal of pediatrics (31.05.2019)
Published in Italian journal of pediatrics (31.05.2019)
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Journal Article
FGF2 High Molecular Weight Isoforms Contribute to Osteoarthropathy in Male Mice
Meo Burt, Patience, Xiao, Liping, Dealy, Caroline, Fisher, Melanie C., Hurley, Marja M.
Published in Endocrinology (Philadelphia) (01.12.2016)
Published in Endocrinology (Philadelphia) (01.12.2016)
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Journal Article
The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
Chen, Xiang, Tang, Meng-Jia, Wan, Shan, Zhang, Yi, Li, Yu-Jue, Yu, Xi-Jie
Published in Chinese medical journal (05.10.2019)
Published in Chinese medical journal (05.10.2019)
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Journal Article
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Hasani-Ranjbar, Shirin, Ejtahed, Hanieh-Sadat, Amoli, Mahsa M., Bitarafan, Fatemeh, Qorbani, Mostafa, Soltani, Akbar, Yarjoo, Bahareh
Published in Journal of clinical research in pediatric endocrinology (01.12.2018)
Published in Journal of clinical research in pediatric endocrinology (01.12.2018)
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Journal Article
Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
Yue, Hua, Yu, Jin-bo, He, Jin-wei, Zhang, Zeng, Fu, Wen-zhen, Zhang, Hao, Wang, Chun, Hu, Wei-wei, Gu, Jie-mei, Hu, Yun-qiu, Li, Miao, Liu, Yu-juan, Zhang, Zhen-Lin
Published in PloS one (16.05.2014)
Published in PloS one (16.05.2014)
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Journal Article
Windswept lower limb deformities in patients with hypophosphataemic rickets
Al Kaissi, Ali, Farr, Sebastian, Ganger, Rudolf, Klaushofer, Klaus, Grill, Franz
Published in Swiss medical weekly (06.12.2013)
Published in Swiss medical weekly (06.12.2013)
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Journal Article
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
Ichikawa, Shoji, Traxler, Elizabeth A., Estwick, Selina A., Curry, Leah R., Johnson, Michelle L., Sorenson, Andrea H., Imel, Erik A., Econs, Michael J.
Published in Bone (New York, N.Y.) (01.10.2008)
Published in Bone (New York, N.Y.) (01.10.2008)
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Journal Article
Nucleus-targeted Dmp1 transgene fails to rescue dental defects in Dmp1 null mice
Lin, Shu-Xian, Zhang, Qi, Zhang, Hua, Yan, Kevin, Ward, Leanne, Lu, Yong-Bo, Feng, Jian-Quan
Published in International journal of oral science (01.09.2014)
Published in International journal of oral science (01.09.2014)
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Journal Article