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Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range ofExpand
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Dystonia Severity Action Plan: a simple grading system for medical severity of status dystonicus and life‐threatening dystonia
SIR–Dystonia is the most common movement disorder seen in childhood and may be defined as ‘a movement disorder in which involuntary sustained or intermittent muscle contractions cause twisting andExpand
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Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
Inborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of theExpand
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Bilateral radial nerve palsy in a newborn
A boy was born at 42 weeks’ gestation following 4 days of labor. Epidural anesthesia was used. Bilateral wrist drop was noted immediately after delivery (figure 1). Induration with localized erythemaExpand
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Outcome and cost of childhood brain injury following assault by young people
Introduction Media interest in inter-juvenile violence in the UK has emphasised to clinicians the lack of data on medical outcomes following injury. A study was undertaken to examine the incidence ofExpand
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Extensive cervical spine and foregut anomaly in 'serpentine syndrome'.
INTRODUCTION We report an extremely rare and challenging combination of congenital anomalies. Only five similar cases have been described in the English language medical literature to date. Expand
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Preoperative botulinum neurotoxin A for children with bilateral cerebral palsy undergoing major hip surgery: a randomized double‐blind placebo‐controlled trial
To assess whether preoperative botulinum neurotoxin A (BoNT‐A) affects pain after major hip surgery for children with bilateral cerebral palsy (CP).
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Pain report and musculoskeletal impairment in young people with severe forms of cerebral palsy: A population-based series.
BACKGROUND While pain is reportedly more prevalent in more functionally impaired children with cerebral palsy, information is scant in those with poor communication skills. METHODS Young peopleExpand
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Treating complex movement disorders in children with cerebral palsy
Cerebral palsy is common, affecting about 2–3 per 1000 children1. These children may have a motor disorder characterised by spasticity, dystonia or both. This can result in significant difficultyExpand
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Recent Advances in Paediatrics –23
  • C. Lundy
  • Medicine
  • The Ulster Medical Journal
  • 1 January 2007
The latest in this popular series of paediatric reviews provides a useful update for general paediatricians and primary care practitioners. The topics range from common conditions such as asthma andExpand
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