• A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome
• A multifaceted ecological approach to explore links between environmental factors and the epidemiology of disorders of gut-brain interaction
• A perspective on the evidence for glymphatic obstruction in spaceflight associated neuro-ocular syndrome and fatigue
• A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts
• A rare case of delayed right atrial lead perforation in an adolescent patient with Brugada syndrome
• A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
• Adenotonsillectomy for the treatment of OSA in children with mucopolysaccharidosis: A systematic review
• Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework
• Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery
• Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
• Anatomical and surgical considerations for Bow Hunter's syndrome in an elderly patient
• Applying the Consensus Criteria for Traumatic Encephalopathy Syndrome Retrospectively to Case Studies of Boxers from the 20th Century
• Assessment of dietary interventions including low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols diet as management for fructose intolerance
• Audiological and Speech and Language Characteristics of a Case with Hunter's Syndrome
• Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature
• Bow hunter's syndrome due to an anomalous right vertebral artery origin and contralateral absence: a case report and literature review
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Cardiovascular toxicities of immune therapies for cancer - a scientific statement of the Heart Failure Association (HFA) of the ESC and the ESC Council of Cardio-Oncology
• Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
• Case Report: Holistic dental care for a child with Hunter syndrome: Addressing dental ramifications, overcoming challenges, and enhancing quality of life
• Case Report: Obstetric and COVID-19-Related Morbidity and Mortality in Three Patients with Sickle Hemoglobinopathy
• Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases
• Chemokine receptor PET imaging: Bridging molecular insights with clinical applications
• Chronic traumatic encephalopathy neuropathologic change in former Australian rugby players
• Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
• Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
• Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome
• Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma
• Common Peroneal Nerve and Tarsal Tunnel Release Surgery in an Adolescent Male with Hunter Syndrome: Illustrative Case
• Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice
• Current and future advances in practice: tendinopathies of the hip
• Current obstetric outcomes in Jamaican women with sickle hemoglobinopathy - a balance of risks for aspirin?
• Cyproheptadine in serotonin syndrome: A retrospective study
• Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
• Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy
• Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
• Disturbances in mitochondrial bioenergetics and control quality and unbalanced redox homeostasis in the liver of a mouse model of mucopolysaccharidosis type II
• Do Precision and Personalised Nutrition Interventions Improve Risk Factors in Adults with Prediabetes or Metabolic Syndrome? A Systematic Review of Randomised Controlled Trials
• Does adjunctive clindamycin have a role in Staphylococcus aureus bacteremia? A protocol for the adjunctive treatment domain of the S. aureus Network Adaptive Platform (SNAP) randomized controlled trial
• Dynamic computed tomography angiography for noninvasive diagnosis of bow Hunter's syndrome: a case report
• Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
• Effect analysis of facial nerve decompression surgery in the treatment of Bell's palsy and Hunt syndrome
• Effects of toll-like receptor agonists and SARS-CoV-2 antigens on interferon (IFN) expression by peripheral blood CD3⁺ T cells from COVID-19 patients
• Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model
• Endoscopic decompression of a C1 osteophyte causing bow hunter's syndrome in a 22-year-old male
• Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment
• Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
• Factors Associated with Development of Thigh Compartment Syndrome Following Subtrochanteric and Diaphyseal Femoral Fractures
• Genetic variants for head size share genes and pathways with cancer
• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
• Global burden and strength of evidence for 88 risk factors in 204 countries and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021
• Heterogeneity in Measures of Illness among Patients with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Is Not Explained by Clinical Practice: A Study in Seven U.S. Specialty Clinics
• HLA-A*23 Is Associated With Lower Odds of Acute Retroviral Syndrome in Human Immunodeficiency Virus Type 1 Infection: A Multicenter Sub-Saharan African Study
• Human coronavirus OC43 nanobody neutralizes virus and protects mice from infection
• Hunter Syndrome and Bull's Eye Maculopathy
• Hunter'S Syndrome and Pebbling of Skin: A Case Report with a Rare Genetic Mutation
• Identifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis
• Illness presentation and quality of life in myalgic encephalomyelitis/chronic fatigue syndrome and post COVID-19 condition: a pilot Australian cross-sectional study
• Impact of an alcohol withdrawal screening and treatment protocol for hospitalized patients
• In suspected ACS, hs-cTnI- vs. c-cTnI-guided care was associated with improved outcomes at 5 y in certain subgroups
• In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome
• Inherited <em>PURA</em> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder
• Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family
• Intracranial calcifications simulating Aicardi-Goutieres syndrome in PARS2-related mitochondrial disease
• Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy
• Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II
• Longitudinal associations of DXA-measured visceral adipose tissue and cardiometabolic risk in middle-to-older aged adults
• Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges
• Management of serotonin syndrome (toxicity)
• Maternal opioid use disorder and infant mortality in Wisconsin, United States, 2010-2018
• Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3beta inhibition for therapeutic potential
• Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients
• Modelled impact of virtual fractional flow reserve in patients undergoing coronary angiography (VIRTU-4)
• Molecular Imaging in Gynecology: Beyond Cancer
• Mucopolysaccharidosis type II B complicated by optic disc swelling, pigmentary retinopathy and macular edema
• Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc
• Natural history of adults with KBG syndrome: a physician-reported experience
• Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I
• Postinjury multiple organ failure: Proposal of the rare syndrome approach
• Prevalence of Long COVID, and the Impact on Diabetes Management and Physical Activity Participation, in People with Type 2 Diabetes: An Australia-wide Cross-Sectional Online Survey
• Psychological symptoms and health-related quality of life in intubated and non-intubated intensive care survivors: A multicentre, prospective observational cohort study
• Recurrent diffuse alveolar hemorrhage and extracorporeal membrane oxygenation utilization in a hematopoietic stem cell transplant patient with Hunter's syndrome
• Refractive errors in patients with Bardet Biedl syndrome
• Renal artery occlusion in a young woman - a tale of mysterious thrombosis
• Restoring adiponectin via rosiglitazone ameliorates tissue wasting in mice with lung cancer
• Safe and effective liver-directed AAV-mediated homology-independent targeted integration in mouse models of inherited diseases
• Serotonin Syndrome After Prolonged Remifentanil and Propofol Infusion for Craniotomy: A Case Report
• Short-term Outcomes After Hip Arthroscopic Surgery in Patients Participating in Formal Physical Therapy Versus a Home Exercise Program: A Prospectively Enrolled Cohort Analysis
• Spaceflight-Associated Neuro-Ocular Syndrome and Idiopathic Intracranial Hypertension: Can Anemia and Hyperemia Underlie Both?
• Specialist physiotherapy for functional motor disorder in England and Scotland (Physio4FMD): a pragmatic, multicentre, phase 3 randomised controlled trial
• Specific GAG ratios in the diagnosis of mucopolysaccharidoses
• Squatting biomechanics following physiotherapist-led care or hip arthroscopy for femoroacetabular impingement syndrome: a secondary analysis from a randomised controlled trial
• T cell-mediated Immune response and correlates of inflammation and their relationship with COVID-19 clinical severity: not an intuitive guess
• Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond
• The association of sociodemographic characteristics and comorbidities with post-acute sequelae of SARS-CoV-2 in a Medicaid managed care population with and without HIV
• The Neurostimulation Appropriateness Consensus Committee (NACC)®: Recommendations for Spinal Cord Stimulation Long-term Outcome Optimization and Salvage Therapy
• The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
• Time to change our approach to presymptomatic treatment of Sturge-Weber syndrome
• Use of infant simulators as an aid in pregnancy and parenting educational interventions for school-aged students: a scoping review
• What impact has the Centre of Research Excellence in Digestive Health made in the field of gastrointestinal health in Australia and internationally? Study protocol for impact evaluation using the FAIT framework