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X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New TreatmentX linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease
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Zika threat leads to Australian-first microcephaly studyWA Researchers have conducted an Australian-first study to determine the prevalence of microcephaly, in preparation of any future outbreak of the Zika virus.
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Th2-associated immunity to bacteria in asthma in teenagers and susceptibility to asthmaBacterial colonisation of the airways is associated with increased risk of childhood asthma
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P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophagesThe P2X7R is highly expressed on the macrophage cell surface, and activation of infected cells by extracellular ATP has been shown to kill intracellular bacte
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A retrospective population-based cohort study identifying target areas for prevention of acute lower respiratory infections in childrenAcute lower respiratory infections (ALRI) are a major cause of hospitalisation in young children
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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multipleDissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21We performed...
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The broader language phenotype of Autism: A comparison with Specific Language ImpairmentSome individuals with autism spectrum disorders (ASD) experience linguistic difficulties similar to those found in individuals with specific language...
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The role of chronic infection in children with otitis media with effusion: Evidence for intracellular persistence of bacteriaDemonstrate mucosal bacterial infection in children with otitis media with effusion (OME).
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Exercise alone reduces insulin resistance in obese children independently of changes in body compositionThe number of obese children with insulin resistance and type 2 diabetes is increasing, but the best management strategy is not clear.
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A DTPa-HBV-IPV vaccine for primary vaccination of infantsCombined vaccines have an increasingly important role to play in delivering these antigens acceptably.