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hypophosphatasia/edema
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5 rezultati
Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia.
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The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross-sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood and adult HPP patients and discuss the results
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
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Hypophosphatasia (HPP) is the inborn error of metabolism characterized by low serum alkaline phosphatase (ALP) activity caused by inactivating mutations within TNSALP, the gene that encodes the "tissue-nonspecific" isoenzyme of ALP (TNSALP). In HPP, extracellular accumulation of inorganic
Recovery of bone mineralization and quality during asfotase alfa treatment in an adult patient with infantile-onset hypophosphatasia.
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Hypophosphatasia (HPP) is a hereditary musculoskeletal disorder characterized by low serum alkaline phosphatase (ALP) activity leading to poor bone mineralization. On a micro-morphological level, this may not only be reflected by an enrichment of osteoid but also a degradation of bone quality.
New form of bone dysplasia with multiple fractures associated with monosomy X.
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We report on the clinical, radiologic, and pathologic findings in a 20-week-old fetus with monosomy X and severe hydrops associated with fetal dwarfism. The fetus presented with osteoporosis, bent bones, multiple fractures, and distinctive symmetric submetaphyseal transverse bone interruptions or
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.
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Hypophosphatasia (HPP) is a rare inborn disease caused by different mutations in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Previous studies showed that gene mutations could exhibit a dominant negative effect leading to a mild HPP phenotype in heterozygous carriers. In the present
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