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Journal of Inherited Metabolic Disease|April 8, 2006
Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiencyL Wang, W-M Yu, C He, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathyC Conter, M O Rolland, D Cheillan, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patientA B Burlina, A Peduto, A Di Palma, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Atypical phenotype in a boy with a maple syrup urine diseaseT I Ben-Omran, S Blaser, H Phillips, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteriesH Ishii, T Takahashi, M Toyono, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Dietary compliance in ornithine aminotransferase deficiencyLucia Santos, White J Fiona, John H Walter
Journal of Inherited Metabolic Disease|November 20, 1998
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical controlS Yap, E Naughten
Journal of Inherited Metabolic Disease|January 26, 2006
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?D Cheillan, M Vercherat, F Chevalier-Porst, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type IaC Mühlhausen, R Schneppenheim, U Budde, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolismM M C Wamelink, D E C Smith, C Jakobs, et al.
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