George Rylance

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7 patients with phenylketonuria who developed neurological disability in adolescence or early adult life are described. 4 had been diagnosed by routine neonatal screening and started a low phenylalanine diet in infancy. 3 were diagnosed in early childhood because of developmental delay, and then started dietary treatment. Dietary control deteriorated in(More)
In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Guidelines provide age-related recommendations for treatment. To ascertain the extent to which these aims are achievable, we audited results from four centres for the years 1994-2000. The median proportion of samples with(More)
*The UK incidence of anaphylactic reactions is increasing. *Patients who have an anaphylactic reaction have life-threatening airway and, or breathing and, or circulation problems usually associated with skin or mucosal changes. *Patients having an anaphylactic reaction should be treated using the Airway, Breathing, Circulation, Disability, Exposure (ABCDE)(More)
Three patients have been reported with (putative) methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency. The urine metabolic pattern was strikingly different in all, including β-alanine, 3-hydroxypropionic acid, both isomers of 3-amino- and 3-hydroxyisobutyric acids in one and 3-hydroxyisobutyric and lactic acids in a second, and mild methylmalonic(More)
AIM The outpatient clinic visit is the major focus of the hospital medical process for most paediatricians, children and parents. The importance of children as active participants in this interaction has been recognized. Our study aims are to describe and assess the components of doctor-parent-child communication in the outpatient setting. METHODS(More)
1 The influence of carbamazepine (CBZ) therapy on saliva antipyrine kinetics, urinary 6 beta-hydroxycortisol excretion and plasma gamma-glutamyltranspeptidase activity was determined in nine children aged 6-14 years. 2 During 5 weeks of CBZ therapy the mean (+/- s.d.) antipyrine clearance increased from 65 +/- 12 ml kg-1 h-1 to 143 +/- 34 ml kg-1 h-1 (P(More)
A 1993 MRC working group on phenylketonuria suggested standardising blood phenylalanine measurements by taking blood samples at the same time each day. Since it is not known how representative of a 24 hour period a single phenylalanine concentration is, the aim of this study was to investigate the 24 hour variability of plasma phenylalanine in well(More)
1 Saliva carbamazepine (CBZ) pharmacokinetics were determined in six children aged 7-11 years at the start and after 5 weeks of CBZ therapy. 2 A single oral dose of CBZ, 14.7 +/- 2.3 mg kg -1, was administered and mixed saliva was collected at intervals during the next 36 h. CBZ therapy was then continued using the same total daily dose divided into two(More)