Sian A Jones

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Hyperammonaemia is common in neonates with branched-chain organic acidaemias, primarily due to the inhibition of N-acetylglutamate (NAG) synthetase; NAG is an activator for carbamylphosphate synthetase I, the first enzyme of the urea cycle. N-Carbamylglutamate, a NAG analogue, has been reported to correct hyperammonaemia in neonates with organic acidaemias.(More)
Pyruvate carboxylase (PC) deficiency (OMIM 266150) is an autosomal recessive disorder that usually presents with lactic acidaemia and severe neurological dysfunction, leading to death in infancy. Because the enzyme is involved in gluconeogenesis and anaplerosis of the Krebs cycle, therapeutic strategies have included avoiding fasting and attempts to correct(More)
Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal treatment centres in the UK. A retrospective case-note review was performed, with additional data being gathered from two national audits on all such(More)
In the light of clinical experience in infantile onset Pompe patients, the immunological impact on the tolerability and long-term efficacy of enzyme replacement therapy (ERT) for lysosomal storage disorders has come under renewed scrutiny. This article details the currently proposed immunological mechanisms involved in the development of anti-drug(More)
Neer type II (Edinburgh type 3B) fractures of the lateral clavicle are unstable fractures. The optimal management of these fractures remains controversial with many surgical techniques described in the literature. Our study reports the long-term results of a modified suture (1.5-mm polydioxanone cord) and sling technique for these fractures to avoid(More)
BACKGROUND Adequate pain relief at the point of injury and during transport to hospital is a major challenge in all acute traumas, especially for those with hip fractures, whose injuries are difficult to immobilise and whose long-term outcomes may be adversely affected by administration of opiate analgesics. Fascia iliaca compartment block (FICB) is a(More)
This paper serves as an introduction to this special edition of the International Journal of Historical Archaeology on the theme of archaeology, memory and oral history. Recent approaches to oral history and memory destabilise existing grand narratives and confront some of the epistemological assumptions underpinning scientific archaeology. Here we discuss(More)
Subacromial corticosteroid injections are frequently used for both diagnostic and therapeutic purposes in shoulder pain. Subacromial septic bursitis is a recognized but rare complication. There have been no reports of methicillin-resistant Staphylococcus aureus infections of the subacromial bursa after subacromial injections in the literature. We describe(More)
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