家族性低リン酸血症
- 関
- hyperphosphaturia、phosphaturia
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
UpToDate Contents
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English Journal
- Excessive Osteocytic Fgf23 Secretion Contributes to Pyrophosphate Accumulation and Mineralization Defect in Hyp Mice.
- Murali SK1, Andrukhova O1, Clinkenbeard EL2, White KE2, Erben RG1.
- PLoS biology.PLoS Biol.2016 Apr 1;14(4):e1002427. doi: 10.1371/journal.pbio.1002427. eCollection 2016.
- X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX). Hyp mice, a murine homologue of XLH, are characterized by hypophosphatemia, inappropriately low
- PMID 27035636
- Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms.
- Che H1, Roux C2, Etcheto A1, Rothenbuhler A1, Kamenicky P1, Linglart A1, Briot K3.
- European journal of endocrinology / European Federation of Endocrine Societies.Eur J Endocrinol.2016 Mar;174(3):325-33. doi: 10.1530/EJE-15-0661.
- OBJECTIVE: Adults with X-linked hypophosphatemia (XLH) may suffer from skeletal symptoms leading to functional disability. No data on their quality of life (QoL) have been reported so far. Our objectives were to evaluate the QoL and its determinants in XLH adults.PATIENTS AND METHODS: We conducted a
- PMID 26783348
- [Vitamin D dependency and its treatment].
- Kitanaka S1.
- Clinical calcium.Clin Calcium.2016 Feb;26(2):277-83. doi: CliCa1602277283.
- Vitamin D dependency is classified to vitamin D-dependent rickets type 1 which shows defective 1,25(OH)(2)D production, and vitamin D-dependent rickets type 2 which shows end-organ unresponsiveness to 1,25(OH)(2)D. Recent advance in the molecular analysis of these diseases revealed variety in the pr
- PMID 26813508
Japanese Journal
- Molecular Bases of Diseases Characterized by Hypophosphatemia and Phosphaturia : New Understanding
- Molecular Bases of Diseases Characterized by Hypophosphatemia and Phosphaturia: New Understanding
Related Links
- Signs and symptoms of familial hypophosphatemia vary greatly, and are usually first noticed at about eighteen months of age. Children often present with progressive bow or knock-knee deformities, and/or short stature.
- Important It is possible that the main title of the report Hypophosphatemia, Familial is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by ...
★リンクテーブル★
[★]
リン酸塩尿症、リン酸塩尿
- 関
- familial hypophosphatemia、hyperphosphaturia
[★]
- 英
- familial hypophosphatemia
- 関
- 高リン酸尿症、リン酸塩尿症
[★]
高リン酸尿症
- 関
- familial hypophosphatemia、phosphaturia
[★]
- 関
- family、family member、household、kindred