Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route

• Material Type: 記事
• Title: Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
• Author Heading: Saygın Abalı; Mayuko Tamura; Serap Turan; Zeynep Atay; Pınar Isguven; Tülay Güran; Belma Haliloglu; Serpil Baş; Tsuyoshi Isojima; Sachiko Kitanaka; Abdullah Bereket
• Publication Date: 2020-04-28
• Publication Date (W3CDTF): 2020-04-28
• Periodical title: Journal of Pediatric Endocrinology and Metabolism
• No. or year of volume/issue: 33 4
• Volume: 33
• Issue: 4
• Pages: 557-562
• Publication date of volume/issue (W3CDTF): 2020-04-28
• ISSN (Periodical Title): 0334018X
• Publication (Periodical Title): Walter de Gruyter GmbH
• Subject Heading: Endocrinology; Endocrinology, Diabetes and Metabolism; Pediatrics, Perinatology and Child Health
• Target Audience: 一般
• DOI: 10.1515/jpem-2019-0466
• Date Created (W3CDTF): 2020-02-12
• Related Material (URI): https://www.degruyter.com/view/journals/jpem/33/4/article-p557.xml; https://www.degruyter.com/document/doi/10.1515/jpem-2019-0466/pdf
• References: Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance; https://cir.nii.ac.jp/crid/1360004232018403968; Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array; https://cir.nii.ac.jp/crid/1360004237572518784; The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies; https://cir.nii.ac.jp/crid/1360011142940840960; Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy; https://cir.nii.ac.jp/crid/1360011145297067008; Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia; https://cir.nii.ac.jp/crid/1360285711379230592; MutationTaster2: mutation prediction for the deep-sequencing age; https://cir.nii.ac.jp/crid/1360292619929858944; 1,25-dihydroxyvitamin D resistance, rickets, and alopecia; https://cir.nii.ac.jp/crid/1360574093843756032; Functional Domains of the Human Vitamin D₃Receptor Regulate Osteocalcin Gene Expression; https://cir.nii.ac.jp/crid/1360574095988535680; A method and server for predicting damaging missense mutations; https://cir.nii.ac.jp/crid/1360855567863031936; Calcium therapy for calcitriol-resistant rickets; https://cir.nii.ac.jp/crid/1360855568438694016; Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.; https://cir.nii.ac.jp/crid/1360855570217128448; Genetic Disorders and Defects in Vitamin D Action; https://cir.nii.ac.jp/crid/1361418519195328640; Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.; https://cir.nii.ac.jp/crid/1361418520578379136; Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and Alopecia; https://cir.nii.ac.jp/crid/1362825894670559104; Hypophosphatemia: the common denominator of all rickets; https://cir.nii.ac.jp/crid/1363388844878275456; PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels; https://cir.nii.ac.jp/crid/1363670320857147264; VarSome: the human genomic variant search engine; https://cir.nii.ac.jp/crid/1364233269690406400; The vitamin D hormone and its nuclear receptor: molecular actions and disease states; https://cir.nii.ac.jp/crid/1371131642638316807; Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports; https://cir.nii.ac.jp/crid/1371131642638316930
• Data Provider (Database): 国立情報学研究所 : CiNii Research
• Original Data Provider (Database): Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja

• Summary, etc.: <jats:title>Abstract</jats:title><jats:sec id="j_jpem-2019-0466_s_999_w2aab3b7c35b1b6b1aab1c16b1Aa"><jats:title>Background</jats:title><jats:p>Heredit...