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Select item 94229131.

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia

Ana Castellano-Martinez, Silvia Acuñas-Soto, Virginia Roldan-Cano, Moises Rodriguez-Gonzalez

J Clin Res Pediatr Endocrinol. 2022 Sep; 14(3): 344–349. Published online 2022 Aug 25. doi: 10.4274/jcrpe.galenos.2021.2020.0287

PMCID:: PMC9422913

Article PDF–453K

Select item 82572862.

X-linked hypophosphatemic rickets: a new mutation

Patrícia Maio, Lia Mano, Sara Rocha, Rute Baeta Baptista, Telma Francisco, Helena Sousa, João Parente Freixo, Margarida Abranches

J Bras Nefrol. 2021 Apr-Jun; 43(2): 279–282. Published online 2020 Sep 4. doi: 10.1590/2175-8239-JBN-2020-0027

PMCID:: PMC8257286

Article PDF–868K

Select item 74369513.

A family of Melnick-Needles syndrome: a case report

Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee

BMC Pediatr. 2020; 20: 391. Published online 2020 Aug 19. doi: 10.1186/s12887-020-02288-2

PMCID:: PMC7436951

Article PDF–947K

Select item 65944834.

Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management

Ali Al Kaissi, Maher B Ghachem, Nesseb M Nabil, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Franz Grill, Rudolf Ganger, Susanne G Kircher

Orthop Surg. 2018 Aug; 10(3): 241–246. Published online 2018 Jul 19. doi: 10.1111/os.12382

PMCID:: PMC6594483

Article PDF–525K

Select item 39186005.

Weismann-Netter-Stuhl syndrome: report of two cases and treatment

Pratyush Gupta, Ravi Mittal, Samarth Mittal, Vivek Shankar

BMJ Case Rep. 2014; 2014: bcr2013201772. Published online 2014 Feb 4. doi: 10.1136/bcr-2013-201772

PMCID:: PMC3918600

Article PDF–346K

Select item 95160636.

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

Xiuying Bai, Mark Levental, Andrew C Karaplis

J Clin Endocrinol Metab. 2022 Oct; 107(10): 2777–2783. Published online 2022 Jul 27. doi: 10.1210/clinem/dgac433

PMCID:: PMC9516063

Article

Select item 94822157.

Not all the bowlegs is rickets! (a case report)

Keta Vagha, Patel Zeeshan Jameel, Jayant Vagha, Ashish Varma, Siddhartha Murhekar, Parameshwar Reddy, Spandana Madirala

Pan Afr Med J. 2022; 42: 161. Published online 2022 Jun 29. doi: 10.11604/pamj.2022.42.161.33990

PMCID:: PMC9482215

Article PDF–822K

Select item 93773868.

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Marcia Janneth Bermeo Cabrera, Pablo Roberto Ordoñez Chacha, Alfredo Adolfo Reza‐Albarrán, Ana Karina Ordoñez Chacha, Marcy Acosta Acero, Agustin Rodas Serrano

Clin Case Rep. 2022 Aug; 10(8): e6217. Published online 2022 Aug 15. doi: 10.1002/ccr3.6217

PMCID:: PMC9377386

Article PDF–1.4M

Select item 90857069.

An Abnormal Presentation of Pediatric Genu Varum, Managed by Bilateral Tibial and Fibular Osteotomies With External Spatial Frame Placement: A Case Report

Robert M Chory, Ryan Cone, Susan Chory

Cureus. 2022 Apr; 14(4): e23953. Published online 2022 Apr 8. doi: 10.7759/cureus.23953

PMCID:: PMC9085706

Article PDF–1.2M

Select item 857038610.

Rickets Due to Severe Vitamin D and Calcium Deficiency During the COVID-19 Pandemic in Malaysia

Nurul Izzah Sodri, Mohamed-Syarif Mohamed-Yassin, Noor Shafina Mohd Nor, Ilham Ameera Ismail

Am J Case Rep. 2021; 22: e934216-1–e934216-6. Published online 2021 Nov 1. doi: 10.12659/AJCR.934216

PMCID:: PMC8570386

Article PDF–1.5M

Select item 847843011.

FROM GARRINCHA’S LEGS TO NEYMAR’S LEGS: THE GENU VARUM AND VALGUM IN SOCCER. HISTORICAL OVERVIEW AND UPDATE

FABRÍCIO LUZ CARDOSO, ENRICO DE LOSSO SENEME, MARCOS VINÍCIUS MURIANO DA SILVA, MARCOS HENRIQUE FERREIRA LARAYA, JOSÉ ANTONIO GALBIATTI, RICARDO HIDEKI YANASSE

Acta Ortop Bras. 2021 Sep-Oct; 29(5): 277–282. doi: 10.1590/1413-785220212905242471

PMCID:: PMC8478430

Article PDF–648K

Select item 823274412.

The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology

Jon Vincze, Brian W. Skinner, Katherine A. Tucker, Kory A. Conaway, Jonathan W. Lowery, Julia M. Hum

Life (Basel) 2021 Jun; 11(6): 563. Published online 2021 Jun 15. doi: 10.3390/life11060563

PMCID:: PMC8232744

Article PDF–236K

Select item 776778213.

Medial Metaphyseal Beak Angle as a Predictor for Langenskiöld Stage II of Blount's Disease

Jidapa Wongcharoenwatana, Kamolporn Kaewpornsawan, Chatupon Chotigavanichaya, Perajit Eamsobhana, Tinh Laoharojanaphand, Piyanuch Musikachart, Thanase Ariyawatkul

Orthop Surg. 2020 Dec; 12(6): 1703–1709. Published online 2020 Sep 30. doi: 10.1111/os.12760

PMCID:: PMC7767782

Article PDF–817K

Select item 713651214.

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak

Ann Pediatr Endocrinol Metab. 2020 Mar; 25(1): 63–67. Published online 2020 Mar 31. doi: 10.6065/apem.2020.25.1.63

PMCID:: PMC7136512

Article PDF–554K

Select item 700827615.

Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania

Evance K. Godfrey, Fatima Mussa, Parvina Kazahura, Aika Shoo, Helga Naburi, Karim P. Manji

Case Rep Endocrinol. 2020; 2020: 1547170. Published online 2020 Jan 28. doi: 10.1155/2020/1547170

PMCID:: PMC7008276

Article PDF–2.0M

Select item 695063916.

A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage

Qiong Chen, Sheng-Nan Wu, Yong-Xing Chen, Selvaa Kumar C., Lu Zhang, Hai-Yan Wei, Senthil Arun Kumar

Bone Rep. 2020 Jun; 12: 100240. Published online 2019 Dec 13. doi: 10.1016/j.bonr.2019.100240

PMCID:: PMC6950639

Article PDF–2.3M

Select item 630323217.

Vitamin D deficiency in immigrants

Paul Lips, Renate T. de Jongh

Bone Rep. 2018 Dec; 9: 37–41. Published online 2018 Jun 11. doi: 10.1016/j.bonr.2018.06.001

Correction in:: Bone Rep. 2021 Jun; 14: 101085.

PMCID:: PMC6303232

Article PDF–420K

Select item 623221118.

Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia

Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato, Leila Daher Moreira, Alcides Moreira, Kranya Victoria Díaz Serrano, Clarissa Teles Rodrigues, Luciana Yamamoto Almeida, Jorge Esquiche León

Head Neck Pathol. 2018 Dec; 12(4): 604–609. Published online 2017 Nov 30. doi: 10.1007/s12105-017-0872-4