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Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumabX-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.
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Potentially Pathogenic Organisms in Stools and Their Association With Acute Diarrheal Illness in Children Aged <2 YearsAcute diarrheal illness (ADI) causes a substantial disease burden in high-income countries. We investigated associations between potentially pathogenic organisms in stools and ADI by polymerase chain reaction (PCR) in Australian children aged <2 years.
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Prospective cohort study of childhood behaviour problems and adolescent sexual risk-taking: Gender mattersThis study sought to determine relationships, by gender, between childhood behaviour problems and adolescent risky sexual behaviours and substance use.
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The potential of phage therapy in cystic fibrosisThis review summarises the phage-microbe-human lung interactions in CF that must be addressed to successfully develop and deliver phage to CF airways
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Australian guide to the diagnosis of foetal alcohol spectrum disorder: A summaryThe Australian Guide to the Diagnosis of Fetal Alcohol Spectrum Disorder has been developed, funded by the Commonwealth Department of Health
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Human alkaline phosphatase dephosphorylates microbial products and is elevated in preterm neonates with a history of late-onset sepsisThe aim of our study was to characterize the activity of TNAP on TLR agonists and assess the concentrations of plasma ALP during late-onset sepsis in newborns.
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A genome-by-environment interaction classifier for precision medicine: personal transcriptome response to rhinovirus identifies children prone to asthma exacerbationsTo introduce a disease prognosis framework enabled by a robust classification scheme derived from patient-specific transcriptomic response to stimulation.
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Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: Findings from the pregnancy and childhood epigenetics (PACE) consortiumwe meta-analysed the association between pre-pregnancy maternal BMI and methylation at over 450,000 sites in newborn blood DNA, across 19 cohorts.
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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: TerminologyLack of agreement about criteria and terminology for children's language problems affects access to services as well as hindering research and practice.
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A prospective audit of pain profiles following general and urological surgery in childrenTo determine the duration and severity of acute postoperative pain experienced by children undergoing 8 different general and urological procedures.