Hereditary 1,25-dihydroxyvitamin D resistant rickets: Molecular basis and implications for the role of 1,25(OH)2D3 in normal physiology
- 10 September 1990
- journal article
- review article
- Published by Elsevier in Molecular and Cellular Endocrinology
- Vol. 72 (3) , C57-C62
- https://doi.org/10.1016/0303-7207(90)90137-w
Abstract
No abstract availableKeywords
This publication has 44 references indexed in Scilit:
- Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1α,25-dihydroxyvitamin D3 receptorMolecular and Cellular Endocrinology, 1990
- The Role of the Vitamin D Endocrine System in Health and DiseaseNew England Journal of Medicine, 1989
- A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs diseaseBiochemical and Biophysical Research Communications, 1988
- Myeloid progenitors from the bone marrow of patients with vitamin D resistant rickets (type II) fail to respond to 1,25(OH)2D3British Journal of Haematology, 1987
- Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytesClinica Chimica Acta; International Journal of Clinical Chemistry, 1986
- Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.Journal of Clinical Investigation, 1985
- VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN DClinical Endocrinology, 1981
- END-ORGAN RESISTANCE TO 1,25-DIHYDROXYCHOLECALCIFEROLThe Lancet, 1980
- Rickets with alopecia: An inborn error of vitaminD metabolismThe Journal of Pediatrics, 1979
- Vitamin-D-Dependent Rickets Type IINew England Journal of Medicine, 1978