Track topics on Twitter Track topics that are important to you
Published on BioPortfolio: 2018-07-27T13:22:12-0400
This is an international, multicentre, prospective, non-interventional, observational registry of patients with X-linked hypophosphatemia (XLH). The main objective of the registry is to co...
The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.
X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Current treatments include active vitamin D metabolites (e.g. calcitriol) and phosphate salts. There is no con...
UX023-CL205 is a multicenter, open-label, Phase 2 study in children from 1 to 4 years old with XLH to assess the safety, PD, and efficacy of KRN23 administered via subcutaneous (SC) inject...
UX023-CL303 is a phase 3 multicenter, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of KRN23 in adult subjects with XLH. Approximately 120 subjects...
Aspects of bone remodeling have only been scarcely studied in X-linked hypophosphatemia (XLH). In this cross-sectional controlled study, we assessed biochemical indices of bone remodeling and sclerost...
Phosphate is a cornerstone of several physiological pathways including skeletal development, bone mineralization, membrane composition, nucleotide structure, maintenance of plasma pH, and cellular sig...
This article identifies the prevalence and associated factors of hypophosphatemia (HP) in very low birth weight (VLBW) infants in the first week of life.
X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia. Manifestations in children consist of rickets, lower-limb bone deformities, b...
The authors' aim in this study was to determine the vitamin D levels of Turkish women who were undergoing in vitro fertilization (IVF). The study design was a descriptive cohort study of a total of 20...
An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.
A condition of an abnormally low level of PHOSPHATES in the blood. Severe hypophosphatemia (below 1 mg/liter) can affect every organ in the body leading to HEMOLYSIS; LASSITUDE; SEIZURES; and COMA. Chronic hypophosphatemia can lead to MUSCLE WEAKNESS; and bone diseases, such as RICKETS and OSTEOMALACIA.
An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.
A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)