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dominant hypophosphatemic rickets (233) 233
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Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 07/2018, Volume 31, Issue 7, pp. 789 - 797
Background: Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally... 
family pedigree analysis | novel mutation | X-link dominant hypophosphatemic rickets | PHEX | PEX GENE | MUTATIONAL ANALYSIS | MISSENSE MUTATIONS | TISSUE DISTRIBUTION | GROWTH | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | FGF23 | PHEX GENE
Journal Article
Calcified Tissue International, ISSN 0171-967X, 11/2019, Volume 105, Issue 5, pp. 476 - 486
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disorder characterized by variant onset ages and diverse phenotypes. Our aim is to... 
Life Sciences | Biochemistry, general | Mutations | Fibroblast growth factor 23 | Orthopedics | Autosomal dominant hypophosphatemic rickets | Endocrinology | Cell Biology | Literature reviews | Fibroblast growth factor | Phenotypes | Nutrient deficiency | Rickets | Genetic analysis | Hypophosphatemia | Mutation | Patients | Genotypes
Journal Article
Journal Article
Bone, ISSN 8756-3282, 02/2013, Volume 52, Issue 2, pp. 640 - 643
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia,... 
Renal phosphate wasting | Osteomalacia | Autosomal dominant hypophosphatemic rickets | Fibroblast growth factor 23 (FGF23) | Metabolic bone disease | Phosphates | Rickets | Fibroblast growth factors
Journal Article
Journal Article
Indian journal of endocrinology and metabolism, ISSN 2230-8210, 03/2012, Volume 16, Issue 2, pp. 177 - 182
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/1997, Volume 82, Issue 2, pp. 674 - 681
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/1997, Volume 100, Issue 11, pp. 2653 - 2657
Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown, We... 
Chromosome 12 | Hypophosphatemia | Rickets | Osteomalacia | Phosphate | MEDICINE, RESEARCH & EXPERIMENTAL | osteomalacia | GENE | DEFECT | phosphate | chromosome 12 | LINKAGE ANALYSIS | MOLECULAR-CLONING | INHERITANCE | PROTEINS | hypophosphatemia | rickets
Journal Article
American Journal of Physiology - Endocrinology And Metabolism, ISSN 0193-1849, 08/2008, Volume 295, Issue 2, pp. 254 - 261
Autosomal recessive hypophosphatemic rickets (ARHR), which is characterized by renal phosphate wasting, aberrant regulation of 1α-hydroxylase activity, and... 
Autosomal recessive hypophosphatemic rickets | Hypophosphatemia | Fibroblastic growth factor 23 | Dentin matrix protein 1 | Osteomalacia | Phosphate homeostasis | phosphate homeostasis | osteomalacia | autosomal recessive hypophosphatemic rickets | PHYSIOLOGY | fibroblastic growth factor 23 | PEX GENE | DOMINANT HYPOPHOSPHATEMIC RICKETS | LINKED HYPOPHOSPHATEMIA | DENTIN MATRIX PROTEIN-1 | IN-VITRO | HYP MICE | MINERALIZATION | ENDOCRINOLOGY & METABOLISM | dentin matrix protein 1 | FIBROBLAST GROWTH FACTOR-23 | BONE | hypophosphatemia | Femur - pathology | Extracellular Matrix Proteins - deficiency | Familial Hypophosphatemic Rickets - metabolism | Fibroblast Growth Factors - genetics | Male | RNA - genetics | Fibroblast Growth Factors - metabolism | Familial Hypophosphatemic Rickets - blood | Familial Hypophosphatemic Rickets - genetics | Rickets - blood | Phosphates - blood | Osteomalacia - metabolism | Genetic Diseases, X-Linked | Extracellular Matrix Proteins - metabolism | Bone Density | Femur - metabolism | Extracellular Matrix Proteins - genetics | Fibroblast Growth Factors - deficiency | Osteomalacia - blood | RNA - chemistry | Reverse Transcriptase Polymerase Chain Reaction | Calcitriol - blood | Mice, Knockout | Osteomalacia - genetics | Rickets - genetics | Animals | Calcification, Physiologic | Fibroblast Growth Factors - blood | Rickets - metabolism | Mice
Journal Article