Výsledky vyhledávání - "Hypophosphataemic rickets"

Ca(OH)2 apexification of pulp necroses of the permanent incisors in a case of X-linked hypophosphataemic rickets—the 60-month check-up: A case report

Autor: Jae-Sik Lee

Publikováno v: Pediatric Dental Journal. 31:112-116

X-linked hypophosphataemic rickets is a hereditary metabolic disorder. The dental features include abscesses and swelling without caries or trauma. We present a case of familial hypophosphataemic rickets in an 11-year-old boy followed up for 60 month

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0515ccdffe0d321309a805c46083f716
https://doi.org/10.1016/j.pdj.2021.01.001

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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases

Autor: Ataf H. Sabir, Melita Irving

Publikováno v: British Medical Bulletin. 139:16-35

Background Genetic skeletal dysplasia conditions (GSDs) account for 5% of all birth defects. Until recently, targeted treatments were only available for select few conditions; 1 however, opportunities arising from developments in molecular diagnostic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12df9b3cd39712b01a5893bb2d1d4a0d
https://doi.org/10.1093/bmb/ldab017

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The orthopaedic management of long bone deformities in genetically and acquired generalized bone weakening conditions

Autor: T. Wirth

Publikováno v: Journal of Children's Orthopaedics

Purpose Diseases such as osteogenesis imperfecta, fibrous dysplasia, hypophosphataemic rickets and others lead to soft and weak bones and long bone deformity in affected patients. As a consequence, these patients lose their walking capacity and funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601657b2f2521f03a046347c6eb7eab9
http://europepmc.org/articles/PMC6376434

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Hypophosphataemic rickets: The long and short of it

Autor: Yassmin Musthaffa, Louise S. Conwell

Publikováno v: Journal of Paediatrics and Child Health. 57:1519-1523

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8f935c3ab5dd30142b8a9d0bdac6683
https://doi.org/10.1111/jpc.15277

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Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

Autor: Michael Smyth, Richard Keen, Lothar Seefried, P. Harvengt

Publikováno v: Osteoporosis International

Summary This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca65b7b69f19c8d09a39a48f8f052797
http://europepmc.org/articles/PMC7755619

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Panel Discussion: Some Aspects of the Management of Patients with X-Linked Hypophosphataemic Rickets

Autor: Jaime Sánchez del Pozo, Jose-Vicente Torregrosa, Manuel Muñoz Torres, María Isabel Luiz Yanes

Publikováno v: Advances in Therapy. 37:121-126

X-linked hypophosphataemia (XLH) rickets is a rare disease frequently misdiagnosed and mismanaged. Despite having clinical guidelines that offers some therapeutic recommendations based on the clinical experience of experts, physicians still have ques

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e2d9ff865f26587d2281d65e0b5692
https://doi.org/10.1007/s12325-019-01208-w

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Autor: Signe Sparre Beck-Nielsen, Dorte Haubek, Hans Gjørup, Jannie Dahl Hald

Publikováno v: Gjørup, H, Beck-Nielsen, S S, Hald, J D & Haubek, D 2021, ' Oral health-related quality of life in X-linked hypophosphataemia and osteogenesis imperfecta ', Journal of Oral Rehabilitation, vol. 48, no. 2, pp. 160-168 . https://doi.org/10.1111/joor.13114
Journal of Oral Rehabilitation

X‐linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare congenital disorders characterised by skeletal dysplasia. The two disorders may include dental anomalies potentially affecting individual well‐being. The aims of study wer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73715e609cb9781dfb21ae201e056890
https://pure.au.dk/ws/files/274415399/J_of_Oral_Rehabilitation_2020_Gj_rup_Oral_health_u2010related_quality_of_life_in_X_u2010linked_hypophosphataemia_and.pdf

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Spontaneous dental abscesses in hereditary hypophosphataemic rickets: a preventive restorative approach in the primary dentition

Autor: Sara L Hughes, Emma J. Hingston

Publikováno v: Dental Update. 46:1067-1072

Patients with Hereditary Hypophosphatemic Rickets (HHR) commonly present with spontaneous dental abscesses and are often faced with a life-long burden of multiple endodontic treatments and/or extractions. Early diagnosis and management is essential t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc84e4ad4d78a855d9826c9fa930fe31
https://doi.org/10.12968/denu.2019.46.11.1067

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