Zobrazeno 1 - 10
of 343
pro vyhledávání: '"Vitamin D-resistant rickets"'
Autor:
L.I. Vakulenko
Publikováno v:
Počki, Vol 13, Iss 3, Pp 220-227 (2024)
Background. X-linked hypophosphatemia is the most common form of hereditary vitamin D-resistant rickets. Today, there is a late diagnosis, later treatment start and a significant deterioration in the quality of life of patients with X-linked hypophos
Externí odkaz:
https://doaj.org/article/ee363a5a69c94282846c4e9088e096b5
Autor:
Cheng Qian, Nobuaki Ito, Kunikazu Tsuji, Shingo Sato, Katsushi Kikuchi, Toshitaka Yoshii, Toshio Miyata, Yoshinori Asou
Publikováno v:
FEBS Open Bio, Vol 14, Iss 2, Pp 290-299 (2024)
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23. Hyp m
Externí odkaz:
https://doaj.org/article/7550630872384916ae5af72381773c6c
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 17, Pp 13-16 (2024)
Nouf F Bin Rubaian,1 Bashayer S Al-Awam,2 Samah M Aljohani,1 Serene R Almuhaidib3 1Department of Dermatology, King Fahad University Hospital, Al Khobar, Saudi Arabia; 2Department of Pediatrics, King Fahad University Hospital, Al Khobar, Saudi Arabia;
Externí odkaz:
https://doaj.org/article/8ebf5154ed904488bc85d8e8dfeb5664
Autor:
Fatima A. H. Al-Jaberi, Cornelia Geisler Crone, Thomas Lindenstrøm, Nicolai Skovbjerg Arildsen, Emilia Sæderup Lindeløv, Louise Aagaard, Eva Gravesen, Rasmus Mortensen, Aase Bengaard Andersen, Klaus Olgaard, Jessica Xin Hjaltelin, Søren Brunak, Charlotte Menné Bonefeld, Martin Kongsbak-Wismann, Carsten Geisler
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Tuberculosis (TB) presents a serious health problem with approximately a quarter of the world’s population infected with Mycobacterium tuberculosis (M. tuberculosis) in an asymptomatic latent state of which 5–10% develops active TB at some point
Externí odkaz:
https://doaj.org/article/fbee91fde87b4df0a8a226a8e14e1831
Autor:
Nikita S. Gvozdev, Evgeniia P. Vykhovanets, Svetlana N. Luneva, Natalia V. Nakoskina, Elena N. Shchurova, Arnold V. Popkov
Publikováno v:
Гений oртопедии, Vol 26, Iss 1, Pp 37-43 (2020)
Background Vitamin D-resistant rickets is a systemic disease with impaired bone remodeling that interferes with orthopaedic treatment of musculoskeletal pathologies. There is a paucity of literature focusing on the content and dynamics in vascular e
Externí odkaz:
https://doaj.org/article/88d5d8b09c754a779bb8c60b1851e349
Akademický článek
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Akademický článek
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Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 4, Pp 221-224 (2018)
Vitamin D-Resistant Rickets (VDRR) is an X-linked disease, causing mineralization disturbances of hard tissues such as bones and deciduous and permanent dentition. The dental findings of VDRR are enlarged pulp horns and chambers, defective enamel/den
Externí odkaz:
https://doaj.org/article/ce3b8f9cfbe441e792873b90c71e9045
Publikováno v:
Regulatory Mechanisms in Biosystems, Vol 9, Iss 1, Pp 41-46 (2018)
Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood throug
Externí odkaz:
https://doaj.org/article/7c1017a7a28e493b998a29a742df5a1b
Autor:
Tsuyoshi Isojima, Michiyasu Ishizawa, Kazuko Yoshimura, Mayuko Tamura, Shinichi Hirose, Makoto Makishima, Sachiko Kitanaka
Publikováno v:
Bone Reports, Vol 2, Iss C, Pp 68-73 (2015)
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is caused by mutations in the VDR gene, and its inheritance is autosomal recessive. In this report, we aimed to confirm whether HVDRR is occasionally inherited as a dominant trait. An 18-mo
Externí odkaz:
https://doaj.org/article/4ee588c87e114ff5b13541509c65f209