Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

<h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which hetero...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Muhammad Faiyaz-Ul-Haque (14585556) (author)
مؤلفون آخرون: Waheeb AlDhalaan (14585557) (author), Abdullah AlAshwal (14585558) (author), Bassam S. Bin-Abbas (14585560) (author), Afaf Alsagheir (8987390) (author), Maram AlOtaiby (564512) (author), Zulqurnain Rafiq (14585562) (author), Syed H.E. Zaidi (14585563) (author)
منشور في: 2018
الموضوعات:
Biomedical and clinical sciences
Clinical sciences
Paediatrics
alopecia
growth retardation
hereditary 1,25-dihydroxyvitamin D-resistant rickets
treatment
vitamin D receptor mutation
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