Associated Papers
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Köprülü Ö et al.
Turkish Archives of Pediatrics, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.
Alsagheir A et al.
Frontiers in Endocrinology, 2024
Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.
Ahmad N et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2024
Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH et al.
Calcified Tissue International, 2023
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
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.
Faiyaz-Ul-Haque M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A.
Kinoshita Y et al.
Endocrine Journal, 2017
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.
Mazen I et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Feldman D et al.
Bonekey Reports, 2014
Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.
Malloy PJ et al.
Molecular Endocrinology (baltimore, Md.), 2013
The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ et al.
Molecular and Cellular Endocrinology, 2011
Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets.
Tiosano D et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene.
Forghani N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
Genetic disorders and defects in vitamin d action.
Malloy PJ et al.
Endocrinology and Metabolism Clinics of North America, 2010
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ et al.
Archives of Biochemistry and Biophysics, 2007
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].
PRADER A et al.
Helvetica Paediatrica Acta, 1961