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2,104 results
  • Hypophosphatemic Hypovitaminosis D Induces Osteomalacia in the Adult Female Rat. [Journal Article]
    Endocrinology. 2020 Jun 27 [Online ahead of print]Durup D, Diaz-delCastillo M, … Heegaard AM
  • Osteomalacia is a bone demineralizing disease of the adulthood, often caused by hypovitaminosis D. Current animal models of the disease mimic osteomalacia as a consequence of gastric bypass or toxic exposure to metals, but a relevant model of diet-induced osteomalacia is lacking. For that purpose, seven-month-old female Sprague Dawley rats were randomized into two weight-stratified groups and mai…
  • Pharmacotherapy in Rare Skeletal Diseases. [Journal Article]
    Handb Exp Pharmacol. 2020 Jun 10 [Online ahead of print]Hoyer-Kuhn H, Schönau E
  • New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). After elucidation of the underlying genotypes and pathophysiologic alterations of these diseases, new treatment options have been designed. Most drugs are based on an inte…
  • New Therapies for Hypophosphatemia-Related to FGF23 Excess. [Review]
    Calcif Tissue Int. 2020 Jun 05 [Online ahead of print]Athonvarangkul D, Insogna KL
  • FGF23 is a hormone produced by osteocytes in response to an elevation in the concentration of extracellular phosphate. Excess production of FGF23 by bone cells, or rarely by tumors, is the hormonal basis for several musculoskeletal syndromes characterized by hypophosphatemia due to renal phosphate wasting. FGF23-dependent chronic hypophosphatemia causes rickets and osteomalacia, as well as other …
  • StatPearls: Genetics, X-Linked Inheritance [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Basta Marina M St. George's University, School of Medicine Pandya Ashish M. AM Saurashtra University Rajkot India. PDU Goverment Medical College & Hospital Rajkot Gujarat India BOOK
  • The X chromosome contains 867 identified genes; most of these genes are responsible for the development of tissues like bone, neural, blood, hepatic, renal, retina, ears, ear, cardiac,  skin, and teeth. There are at least 533 disorders due to the involvement of the genes on the X chromosome.[1] A 'trait' or 'disorder' determined by a gene on the X  chromosome demonstrates X-linked inheritance.  I…
  • Congenital Conditions of Hypophosphatemia Expressed in Adults. [Review]
    Calcif Tissue Int. 2020 May 14 [Online ahead of print]Marcucci G, Brandi ML
  • The main congenital conditions of hypophosphatemia expressed in adulthood include several forms of hereditary hypophosphatemic rickets and a congenital disorder of vitamin D metabolism characterized by osteomalacia and hypophosphatemia in adult patients. Hypophosphatemia in adults is defined as serum phosphate concentration < 0.80 mmol/L. The principal regulators of phosphate homeostasis, as is w…
  • A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age. [Journal Article]
    Calcif Tissue Int. 2020 Jul; 107(1):96-103.Eltan M, Alavanda C, … Turan S
  • Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was bor…
  • Congenital Conditions of Hypophosphatemia in Children. [Review]
    Calcif Tissue Int. 2020 Apr 23 [Online ahead of print]Imel EA
  • Great strides over the past few decades have increased our understanding of the pathophysiology of hypophosphatemic disorders. Phosphate is critically important to a variety of physiologic processes, including skeletal growth, development and mineralization, as well as DNA, RNA, phospholipids, and signaling pathways. Consequently, hypophosphatemic disorders have effects on multiple systems, and m…
  • Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review. [Case Reports]
    Clin Pediatr Endocrinol. 2020; 29(2):69-75.Oyama N, Kojima-Ishii K, … Ohga S
  • Phosphaturic mesenchymal tumor, mixed connective tissue variant (PMT-MCT) causes tumor-induced osteomalacia (TIO). Most cases follow a benign clinical course, with rare occurrences of malignant transformation. We report a case of malignant PMT-MCT and review previous malignant cases to identify predictive factors for transformation. A 13-yr-old female, who presented with hypophosphatemic rickets,…
  • Natural history of non-lethal Raine syndrome during childhood. [Journal Article]
    Orphanet J Rare Dis. 2020 Apr 16; 15(1):93.Mameli C, Zichichi G, … Zuccotti G
  • CONCLUSIONS: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.
  • Phenotypes of a family with XLH with a novel PHEX mutation. [Journal Article]
    Hum Genome Var. 2020; 7:8.Yamamoto A, Nakamura T, … Ozono K
  • X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more se…
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