Results 11 to 20 of about 2,414 (178)
Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets [PDF]
The Scientific World Journal, 2005 This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS ...
Mauro M.S. Borghi +2 more
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Intestinal phosphate transport in familial hypophosphatemia [PDF]
Pediatric Research, 1974 Renal inorganic phosphate (Pi) transport is impaired in familial hypophosphatemic rickets (FHR). Short et al. (Science,179, 700, 1973) have reported that the mutation was also expressed in the gut. We have examined Pi uptake in vitro by jejunal mucosa from 7 (4 female, 3 male) FHR mutants (from 5 pedigrees) and 6 controls.
F H Glorieux +5 more
core +4 more sources
The Turkish Journal of Pediatrics, 2023 Background. Familial hypocalciuric hypercalcemia (FHH) is one of the conditions that should be considered in the differential diagnosis of hypercalcemia and normo-hypophosphatemia in childhood.
Serkan Bilge Koca
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Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
Bezmiâlem Science, 2018 Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome.
Ender COŞKUNPINAR +8 more
doaj +2 more sources
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. [PDF]
Proceedings of the National Academy of Sciences, 1976 A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end. Mutant mice are characterized by hypophosphatemia, bone changes resembling rickets, diminished bone ash, dwarfism, and high fractional excretion of phosphate anion (low net ...
Eicher, E M +3 more
openaire +3 more sources
Metabolism of Vitamin D3-3H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia* [PDF]
Journal of Clinical Investigation, 1967 The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a ...
L V, Avioli +3 more
openaire +3 more sources
BMC PediatricsBackground Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene.
Hugo Hernán Abarca-Barriga +4 more
doaj +2 more sources
Treatment of Familial Hypophosphatemia
Orthopedics & Traumatology, 1980 M. Oohama, K. Yamamoto, H. Kishimoto
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JCI InsightFibroblast growth factor 23 (FGF23) production has recently been shown to increase downstream of Gαq/11-PKC signaling in osteocytes. Inactivating mutations in the gene encoding Gα11 (GNA11) cause familial hypocalciuric hypercalcemia (FHH) due to impaired
Birol Ay +9 more
doaj +2 more sources
FAMILIAL HYPOPHOSPHATEMIA: AN INHERITED DEMAND FOR INCREASED VITAMIN D?* [PDF]
Annals of the New York Academy of Sciences, 1961 J B, GRAHAM, R W, WINTERS
openaire +3 more sources