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Article
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study
In order to test the feasibility of cord blood screening for inherited metabolic disease, a two-year cohort study of births in six obstetric units from five towns in the north of England was undertaken. These ...
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Article
Open AccessErratum: The E3 ubiquitin ligase EDD is an adverse prognostic factor for serous epithelial ovarian cancer and modulates cisplatin resistance in vitro
Correction to: British Journal of Cancer (2008) 98, 1085–1093. doi:10.1038/sj.bjc.6604281 During revision and subsequent submission of the above paper to the journal, an author's name, Rajmohan Murali, was omi...
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Article
Open AccessThe E3 ubiquitin ligase EDD is an adverse prognostic factor for serous epithelial ovarian cancer and modulates cisplatin resistance in vitro
Despite a high initial response rate to first-line platinum/paclitaxel chemotherapy, most women with epithelial ovarian cancer relapse with recurrent disease that becomes refractory to further cytotoxic treatm...
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Article
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of...
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Article
Heterogeneity of symptomatology in two male siblings with thymine uraciluria
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Article
5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder
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Article
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
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Chapter and Conference Paper
Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the pyrimidine bases uracil and thymine and catalyses the degradation of dihydrouracil ...
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Chapter and Conference Paper
Economical computer integrated manufacturing
Use of Personal Computers and Local Area Network technology to provide a low cost integrated solution for CIM applications. This paper ex amines the historical development of CIM and the current state of the a...
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Article
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation
The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McK ...