Two novel PHEX mutations in taiwanese patients with X-linked hypophosphatemic rickets
- Author
- LO, Fu-Sung1 ; KUO, Min-Tzu1 ; WANG, Chao-Jan2 ; CHANG, Chia-Hsieh3 ; LEE, Zhon-Liau3 ; VAN, Yang-Hau1
[1] Department of Pediatrics, Chang Gung Children Hospital, Taoyuan, Taiwan, Province of China
[2] Department of Radiology, Chang Gung Children Hospital, Taoyuan, Taiwan, Province of China
[3] Department of Orthopedics, Division of Endocrinology, Chang Gung Children Hospital, Taoyuan, Taiwan, Province of China - Source
The Nephron journals. 2006, Vol 103, Num 4 ; p157-p163 ; ref : 20 ref
- ISSN
- 1660-8151
- Scientific domain
- Urology, nephrology
- Publisher
- Karger, Basel
- Publication country
- Switzerland
- Document type
- Article
- Language
- English
- Author keyword
- Bone mineralization Hypophosphatemia Phosphate- regulating gene with homologies to endopeptidases on X-chromosome X-linked hypophosphate rickets
- Keyword (fr)
- Caractère lié au sexe Chromosome X Elément minéral Endopeptidase Gène Génétique Homme Homologie Hypophosphate Hypophosphatémie Minéralisation Mutation Os Phosphate Phosphore Rachitisme hypophosphatémique Urologie Vitamine D Néphrologie Taiwan Appareil urinaire pathologie Enzyme Hydrolases Maladie héréditaire Métabolisme pathologie Peptidases Rachitisme vitaminorésistant Rein pathologie Système ostéoarticulaire pathologie Système ostéoarticulaire Trouble métabolisme Trouble équilibre hydroélectrolytique Tubulopathie Asie
- Keyword (en)
- Sex linked character X-Chromosome Inorganic element Endopeptidase Gene Genetics Human Homology Hypophosphates Hypophosphatemia Mineralization Mutation Bone Phosphates Phosphorus Hypophosphatemic rickets Urology Vitamin D Nephrology Taiwan Urinary system disease Enzyme Hydrolases Genetic disease Metabolic diseases Peptidases Vitamin resistant rickets Kidney disease Diseases of the osteoarticular system Osteoarticular system Metabolic disorder Hydroelectrolytic balance disorder Tubulopathy Asia
- Keyword (es)
- Carácter ligado al sexo Cromosoma X Elemento inorgánico Endopeptidase Gen Genética Hombre Homología Hipofosfato Hipofosfatemia Mineralización Mutación Hueso Fosfato Fósforo Raquitismo hipofosfatinémico Urología Vitamina D Nefrología Taiwan Aparato urinario patología Enzima Hydrolases Enfermedad hereditaria Metabolismo patología Peptidases Raquitismo vitaminorresistente Riñón patología Sistema osteoarticular patología Sistema osteoarticular Trastorno metabolismo Trastorno equilibrio hidroelectrolítico Tubulopatía Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A03 Tubulopathies
- Discipline
- Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17945829
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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