Works matching Hypophosphatemic rickets

Results: 600

Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.

Published in:

Pediatric Nephrology, 2018, v. 33, n. 3, p. 447, doi. 10.1007/s00467-017-3820-3

By:

Meyerhoff, Nadine;
Haffner, Dieter;
Staude, Hagen;
Wühl, Elke;
Marx, Michaela;
Beetz, Rolf;
Querfeld, Uwe;
Holder, Martin;
Billing, Heiko;
Rabl, Wolfgang;
Schröder, Carmen;
Hiort, Olaf;
Brämswig, Jürgen H.;
Richter-Unruh, Annette;
Schnabel, Dirk;
Živičnjak, Miroslav;
on Behalf of the Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”

Publication type:

Article

肾磷阈在儿童X-连锁低磷性佝偻病诊治中的临床价值.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 9, p. 926, doi. 10.7499/j.issn.1008-8830.2401056

By:

陶佳琪;
陈颖

Publication type:

Article

85 例低血磷性佝偻病患儿诊断、治疗与随访的回顾性研究.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 7, p. 677, doi. 10.7499/j.issn.1008-8830.2312013

By:

李海琦;
陈秋霞;
车若琛;
郑必霞;
张爱华;
陈颖

Publication type:

Article

Hypophosphatemic rickets.

Published in:

Indian Journal of Endocrinology & Metabolism, 2012, v. 16, n. 2, p. 177, doi. 10.4103/2230-8210.93733

By:

Jagtap, Varsha S.;
Sarathi, Vijaya;
Lila, Anurag R.;
Bandgar, Tushar;
Menon, Padmavathy;
Shah, Nalini S.

Publication type:

Article

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases.

Published in:

2007

By:

Currarino, Guido

Publication type:

journal article

Raquitismos hipofosfatémicos hereditarios.

Published in:

Boletín Médico del Hospital Infantil de México, 2013, v. 70, n. 6, p. 421

By:

Velásquez-Jones, Luis;
Medeiros-Domingo, Mara

Publication type:

Article

X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1941

By:

Sant' Ana, Iara;
Torrini, Renato;
Alves Coelho, Maria Caroline;
Cantoni, Joyce;
Madeira, Miguel;
Ribeiro, Márcia

Publication type:

Article

Value of serum fibroblast growth factor 23 in diagnosis of hypophosphatemic rickets in children.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 7, p. 705, doi. 10.7499/j.issn.1008-8830.2303016

By:

DONG Sha-Sha;
CHE Ruo-Chen;
ZHENG Bi-Xia;
ZHANG Ai-Hua;
WANG Chun-Li;
BAI Mi;
CHEN Ying

Publication type:

Article

Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases.

Published in:

Chinese Journal of Contemporary Pediatrics, 2017, v. 19, n. 5, p. 534, doi. 10.7499/j.issn.1008-8830.2017.05.011

By:

RAN Qing;
XIONG Feng;
ZHU Min;
DENG Lei-Li;
LEI Pei-Yun;
LUO Yan-Hong;
ZENG Yan;
ZHU Gao-Hui;
SONG Cui

Publication type:

Article

Obiteljski hipofosfatemijski rahitis: genetska osnova, prikaz slučaja te novi pristupi u liječenju.

Published in:

Lijecnicki Vjesnik, 2022, v. 144, p. 61, doi. 10.26800/LV-144-supl6-PS34

By:

Jukić, Lea;
Gržan, Dina;
Ramadža, Danijela Petković;
Barić, Ivo;
Žigman, Tamara;
Čavka, Mislav

Publication type:

Article

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.

Published in:

Turkish Journal of Pediatrics, 2022, v. 64, n. 3, p. 585, doi. 10.24953/turkjped.2021.829

By:

Bitkin, Eda Çelebi;
Aymelek, Huri Sema

Publication type:

Article

Hypophosphatemic Rickets: Unraveling the Role of FGF23.

Published in:

Calcified Tissue International, 2012, v. 91, n. 5, p. 297, doi. 10.1007/s00223-012-9651-0

By:

Pettifor, John;
Thandrayen, Kebashni

Publication type:

Article

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Published in:

2011

By:

Jap, Tjin-Shing;
Chiu, Chih-Yang;
Niu, Dau-Ming;
Levine, Michael;
Levine, Michael A

Publication type:

journal article

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2021, v. 26, n. 2, p. 130, doi. 10.6065/apem.2040186.093

By:

In Hwa Jeong;
Jae-Ho Yoo;
Namhee Kim

Publication type:

Article

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 229, doi. 10.6065/apem.2018.23.4.229

By:

Misun Yang;
Jinsup Kim;
Aram Yang;
Jahyun Jang;
Tae Yeon Jeon;
Sung Yoon Cho;
Dong-Kyu Jin

Publication type:

Article

Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment.

Published in:

Oral Diseases, 2007, v. 13, n. 5, p. 482, doi. 10.1111/j.1601-0825.2006.01326.x

By:

Chaussain‐Miller, C;
Sinding, C;
Septier, D;
Wolikow, M;
Goldberg, M;
Garabedian, M

Publication type:

Article

FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.

Published in:

Indian Pediatrics, 2025, v. 62, n. 3, p. 211, doi. 10.1007/s13312-025-00024-6

By:

Karlekar, Manjiri Pramod;
Dodamani, Manjunath Havalappa;
Lila, Anurag;
Memon, Saba Samad;
Sharma, Anima;
Sarathi, Vijaya;
Hegishte, Samiksha;
Barnabas, Rohit;
Shah, Nalini;
Bandgar, Tushar

Publication type:

Article

Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature.

Published in:

2015

By:

Burckhardt, Marie-Anne;
Schifferli, Alexandra;
Krieg, Andreas;
Baumhoer, Daniel;
Szinnai, Gabor;
Rudin, Christoph

Publication type:

Report

Hypophosphatemic rickets: A case of recurrent pathological fractures.

Published in:

Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S402, doi. 10.4103/2230-8210.104108

By:

Baidya, Arjun;
Chowdhury, Subhankar;
Mukhopadhyay, Satinath;
Ghosh, Sujoy

Publication type:

Article

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 274, doi. 10.1159/000538388

By:

Tanaka, Hiroyuki;
Tamura, Mayuko;
Muto, Mirai;
Kinoshita, Yuka;
Ito, Nobuaki;
Oka, Akira;
Kitanaka, Sachiko

Publication type:

Article

Hypophosphatemic Rickets Associated with Epidermal Nevus Syndrome and Giant Hairy Nevus.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 1, p. 93, doi. 10.1515/jpem.2005.18.1.93

By:

Yen-Yin Chou;
Sheau-Chiou Chao;
Chiou-Nan Shiue;
Wen-Hui Tsai;
Shio-Jean Lin

Publication type:

Article

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

Published in:

2025

By:

Lim, Wu Tzen;
Nenke, Marni;
Rawlings, Lesley;
Wells, Amanda;
Vakulin, Cassandra;
Waters, Wendy;
De Sousa, Sunita

Publication type:

Case Study

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.

Published in:

Calcified Tissue International, 2022, v. 110, n. 2, p. 266, doi. 10.1007/s00223-021-00909-1

By:

Lin, Yunting;
Zhang, Wen;
Huang, Xinjiang;
Su, Ling;
Cai, Yanna;
Liang, Cuili;
Rao, Min;
Liu, Li;
Zeng, Chunhua

Publication type:

Article

Bone Turnover Markers and Bone Mineral Density in Children with Hypophosphatemic Rickets.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4622, doi. 10.3390/jcm11154622

By:

Michałus, Izabela;
Łupińska, Anna;
Woch, Izabela;
Wieczorek-Szukała, Katarzyna;
Chlebna-Sokół, Danuta;
Lewiński, Andrzej

Publication type:

Article

Hereditary hypophosphatemic rickets.

Published in:

Boletín Médico del Hospital Infantil de México, 2013, v. 70, n. 6, p. 421

By:

Velásquez-Jones, Luis;
Medeiros-Domingo, Mara

Publication type:

Article

Therapeutic Use of Oral Sodium Phosphate (Phosribbon® Combination Granules) in Hereditary Hypophosphatemic Rickets.

Published in:

Clinical Pediatric Endocrinology, 2014, v. 23, n. 1, p. 9, doi. 10.1297/cpe.23.9

By:

Keiichi Ozono;
Yukihiro Hasegawa;
Masanori Minagawa;
Masanori Adachi;
Noriyuki Namba;
Itsuro Kazukawa;
Taichi Kitaoka;
Yumi Asakura;
Asami Shimura;
Yuki Naito

Publication type:

Article

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 5, p. 1053, doi. 10.1210/js.2018-00338

By:

Neto, Guido de Paula Colares;
Yamauchi, Fernando Ide;
Baroni, Ronaldo Hueb;
Bianchi, Marco de Andrade;
Gomes, Andrea Cavalanti;
Chammas, Maria Cristina;
Martin, Regina Matsunaga

Publication type:

Article

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1262

By:

Li, Baowei;
Wang, Xiong;
Hao, Xiaodan;
Liu, Yanran;
Wang, Yin;
Shan, Chan;
Ao, Xiang;
Liu, Ying;
Bao, HongChu;
Li, Peifeng

Publication type:

Article

Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets.

Published in:

Journal of Bone & Mineral Research, 2013, v. 28, n. 4, p. 899, doi. 10.1002/jbmr.1810

By:

Wöhrle, Simon;
Henninger, Christine;
Bonny, Olivier;
Thuery, Anne;
Beluch, Noemie;
Hynes, Nancy E;
Guagnano, Vito;
Sellers, William R;
Hofmann, Francesco;
Kneissel, Michaela;
Graus Porta, Diana

Publication type:

Article

The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets.

Published in:

Child's Nervous System, 2019, v. 35, n. 6, p. 1045, doi. 10.1007/s00381-018-04042-7

By:

Lee, Keun Soo;
Lee, Bo Lyun

Publication type:

Article

Opóźnione rozpoznanie i trudności w leczeniu krzywicy hipofosfatemicznej u 7-letniej dziewczynki - opis przypadku.

Published in:

Pediatric Endocrinology / Endokrynologia Pediatryczna, 2016, v. 15, n. 3, p. 55, doi. 10.18544/EP-01.15.03.1651

By:

Wrzołek, Katarzyna;
Rysz, Izabela;
Kołłątaj, Witold;
Kołłątaj, Barbara;
Klatka, Maria

Publication type:

Article

Hereditary hypophosphatemic rickets and craniosynostosis.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1105, doi. 10.1515/jpem-2021-0042

By:

Arenas, María Alejandra;
Jaimovich, Sebastián;
Perez Garrido, Natalia;
del Pino, Mariana;
Viterbo, Gisela;
Marino, Roxana;
Fano, Virginia

Publication type:

Article

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 639, doi. 10.1515/jpem-2020-0624

By:

Turan, Ihsan;
Erdem, Sevcan;
Kotan, Leman Damla;
Ozdemir Dilek, Semine;
Tastan, Mehmet;
Gurbuz, Fatih;
Bişgin, Atıl;
Karabay Bayazıt, Aysun;
Topaloglu, Ali Kemal;
Yuksel, Bilgin

Publication type:

Article

Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 2, p. 305, doi. 10.1515/jpem-2019-0380

By:

Zhao, Yongting;
Yang, Fan;
Wang, Lihong;
Che, Hui

Publication type:

Article

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 7, p. 789, doi. 10.1515/jpem-2017-0451

By:

Xinfu Lin;
Yaobin Zhu;
Jiewei Luo;
Jianbin Huang

Publication type:

Article

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 967, doi. 10.1515/jpem-2014-0531

By:

Steichen-Gersdorf, Elisabeth;
Lorenz-Depiereux, Bettina;
Strom, Tim Matthias;
Shaw, Nicholas J.

Publication type:

Article

Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 1/2, p. 211, doi. 10.1515/jpem-2014-0103

By:

Zou, Minjing;
Buluş, Derya;
Al-Rijjal, Roua A.;
Andıran, Nesibe;
BinEssa, Huda;
Kattan, Walaa E.;
Meyer, Brian;
Shi, Yufei

Publication type:

Article

Evaluation of bone markers in hypophosphatemic rickets/osteomalacia.

Published in:

2011

By:

Nagata, Yuki;
Imanishi, Yasuo;
Ishii, Akira;
Kurajoh, Masafumi;
Motoyama, Koka;
Morioka, Tomoaki;
Naka, Hiroshi;
Mori, Katsuhito;
Miki, Takami;
Emoto, Masanori;
Inaba, Masaaki

Publication type:

Letter

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant.

Published in:

Journal of Investigative Medicine High Impact Case Reports, 2015, v. 3, n. 3, p. 1, doi. 10.1177/2324709615598167

By:

Kok Siong Poon;
Anjian Sng, Andrew;
Weili Ho, Cindy;
Siew-Chuan Koay, Evelyn;
Kah Yin Loke

Publication type:

Article

Hyperparathyroidism and cervical canal stenosis in twins with hypophosphatemic rickets.

Published in:

Pediatrics International, 2000, v. 42, n. 3, p. 310, doi. 10.1046/j.1442-200X.2000.01210.x

By:

Thomas, Nihal;
Burnet, Richard

Publication type:

Article

A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report.

Published in:

2021

By:

Al-Sharafi, Butheinah A.;
Al-Yousfi, Nuha A.;
Bamashmus, Said A.

Publication type:

journal article

Targeting the underlying pathophysiology in X-linked hypophosphatemic rickets in adults.

Published in:

ARP Rheumatology, 2022, v. 47, n. 1, p. 83

By:

H., Assunção;
A. R., Prata;
J., Silva;
A., Malcata

Publication type:

Article

Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.

Published in:

International Journal of Molecular Medicine, 2018, v. 41, n. 4, p. 2012, doi. 10.3892/ijmm.2018.3402

By:

Liao, Hong;
Zhu, Hong-Mei;
Liu, Hong-Qian;
Li, Ling-Ping;
Liu, Shan-Ling;
Wang, He

Publication type:

Article

Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 10, p. 2777, doi. 10.1210/clinem/dgac433

By:

Xiuying Bai;
Levental, Mark;
Karaplis, Andrew C.

Publication type:

Article

It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use.

Published in:

Clinical Case Reports, 2017, v. 5, n. 8, p. 1348, doi. 10.1002/ccr3.1052

By:

Abulebda, Kamal;
Abu‐Sultaneh, Samer;
Lutfi, Riad

Publication type:

Article

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1251718

By:

Xiaoming Chen;
Cijing Cai;
Shaocong Lun;
Qiuli Ye;
Weiyuan Pan;
Yushi Chen;
Yuexuan Wu;
Taoshan Feng;
Faming Su;
Choudi Ma;
Jiaxin Luo;
Meilian Liu;
Guoda Ma

Publication type:

Article

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 150, doi. 10.4274/jcrpe.galenos.2019.2019.0098

By:

Siklar, Zeynep;
Turan, Serap;
Bereket, Abdullah;
Bas, Firdevs;
Güran, Tülay;
Akberzade, Azad;
Abaci, Ayhan;
Demir, Korcan;
Böber, Ece;
Özbek, Mehmet Nuri;
Kara, Cengiz;
Poyrazoglu, Sükran;
Aydin, Murat;
Kardelen, Asli;
Tarim, Ömer;
Eren, Erdal;
Hatipoglu, Nihal;
Büyükinan, Muammer;
Akyürek, Nesibe;
Çetinkaya, Semra

Publication type:

Article

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 4, p. 343, doi. 10.4274/jcrpe.0057

By:

Hasani-Ranjbar, Shirin;
Ejtahed, Hanieh-Sadat;
Amoli, Mahsa M.;
Bitarafan, Fatemeh;
Qorbani, Mostafa;
Soltani, Akbar;
Yarjoo, Bahareh

Publication type:

Article

SLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2012, v. 4, n. 2, p. 89, doi. 10.4274/jcrpe.601

By:

Hasani-Ranjbar, Shirin;
Amoli, Mahsa M.;
Ebrahim-Habibi, Azadeh;
Dehghan, Ehsan;
Soltani, Akbar;
Amiri, Parvin;
Larijani, Bagher

Publication type:

Article

Phenotype presentation of hypophosphatemic rickets in adults.

Published in:

2010

By:

Beck-Nielsen, Signe S.;
Brusgaard, Klaus;
Rasmussen, Lars M.;
Brixen, Kim;
Brock-Jacobsen, Bendt;
Poulsen, Mette R.;
Vestergaard, Peter;
Ralston, Stuart H.;
Albagha, Omar M. E.;
Poulsen, Sven;
Haubek, Dorte;
Gjørup, Hans;
Hintze, Hanne;
Andersen, Mette G.;
Heickendorff, Lene;
Hjelmborg, Jacob;
Gram, Jeppe;
Gjørup, Hans

Publication type:

journal article