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Journal of Inherited Metabolic Disease|January 31, 2003
Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled populationS C J Huijbregts, L M J de Sonneville, R Licht, et al.Journal of Inherited Metabolic Disease|January 31, 2003
Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the cardT G Brune, A Ch Lambrecht, H G KochJournal of Inherited Metabolic Disease|January 31, 2003
Mutation screening for tyrosinaemia type IS K Heath, R G F Gray, P McKiernan, et al.Journal of Inherited Metabolic Disease|March 18, 2003
Simple method for detection of mutations causing hereditary fructose intoleranceC Kullberg-Lindh, C Hannoun, M LindhJournal of Inherited Metabolic Disease|March 18, 2003
Newborn screening compared to clinical identification of biochemical genetic disordersS E Waisbren, C Y Read, M Ampola, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum diseaseH Mandel, M Berant, D Meiron, et al.Journal of Inherited Metabolic Disease|January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')D Chitayat, J Chemke, K M Gibson, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucoseR J Wanders, F A Wijburg, J Ruiter, et al.Journal of Inherited Metabolic Disease|September 16, 2003
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boyJ E Lee, H R Yoon, K H Paik, et al.Journal of Inherited Metabolic Disease|September 16, 2003
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentationA Fiumara, A B P van Kuilenburg, U Caruso, et al.Pageof 429