نتایج جستجو برای: hypophosphatasia
تعداد نتایج: 591 فیلتر نتایج به سال:
The object of this chapter was to provide an overview including relevant research progress some genetic disorders with periodontal manifestations. A number increase patient susceptibility disease, the latter exhibit rather rapid and aggressive presentations. Periodontal perhaps could be first detectable sign undiagnosed disorder. It is therefore important for dental practitioners familiar their...
HPP is a clinically heterogeneous disease and classified into at least six forms according to severity and age of onset: perinatal (lethal), perinatal (benign), infantile (MIM [Mendelian Inheritance in Man] # 241500), childhood (MIM# 241510), adult (MIM# 146300), and odontohypophosphatasia (Mornet, 2008) (Table 1). All forms of HPP display reduced activity of unfractionated serum ALP and the pr...
Abstract Background/Aims Hypophosphatasia is a metabolic bone disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphate (TNSALP). Adults present with variety of manifestations including musculoskeletal pain, calcium pyrophosphate (CPPD), dental problems and low trauma fractures. The characteristic finding hypophosphatasia persistently ALP. Due to non-specific presen...
INTRODUCTION We report a case of an adolescent sustaining bilateral femoral neck fractures due to a first time epileptic seizure, as a result of expansion of his known syrinx. CASE REPORT A 19-year-old patient suffering from hypophosphatasia (HPP), Arnold-Chiari malformation, and a ventriculoperitoneal shunt sustained a trivial fall with profound pain and an inability to mobilize. Radiographs...
Osteoblasts mineralize bone matrix by promoting hydroxyapatite crystal formation and growth in the interior of membrane-limited matrix vesicles (MVs) and by propagating the crystals onto the collagenous extracellular matrix. Two osteoblast proteins, tissue-nonspecific alkaline phosphatase (TNAP) and plasma cell membrane glycoprotein-1 (PC-1) are involved in this process. Mutations in the TNAP g...
An isotope dilution method, using (32)P-labeled pyrophosphate, has been developed for the measurement of inorganic pyrophosphate (PP(1)) in human plasma. The specificity of the method was better than 90% as assessed by elution patterns during ion-exchange chromatography, by paper chromatography, and by incubation with inorganic pyrophosphatase. The 99% confidence limits for a single estimation ...
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manif...
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