21 research outputs found
Localized Histoplasma capsulatum osteomyelitis of the fibula in an immunocompetent teenage boy: a case report
Tripping on Acid: Trans-Kingdom Perspectives on Biological Acids in Immunity and Pathogenesis
Quality of reporting of randomised controlled trials in chiropractic using the CONSORT checklist
Modeling error in experimental assays using the bootstrap principle: understanding discrepancies between assays using different dispensing technologies
Exogenous 5-Aminolevulenic Acid Promotes Seed Germination in Elymus nutans against Oxidative Damage Induced by Cold Stress
Menkes disease
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms
Airborne bacteria, fungi, and endotoxin levels in residential microenvironments: A case study
10.1007/s10453-011-9242-yAerobiologia283375-390AROB