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Journal of Inherited Metabolic Disease|May 20, 2005
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horváth, P Freisinger, R Rubio, et al.Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.Journal of Inherited Metabolic Disease|May 20, 2005
Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutationB Blois, C Riddell, K Dooley, et al.Journal of Inherited Metabolic Disease|May 20, 2005
Absolute configuration of N-acetylaspartate in urine from patients with Canavan diseaseD Bal, A Gryff-Keller, W GradowskaJournal of Inherited Metabolic Disease|September 10, 2005
Behavioural factors related to metabolic control in patients with phenylketonuriaM R Crone, F J van Spronsen, K Oudshoorn, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Clinical evaluation of a portable lactate meter in type I glycogen storage diseaseA C Saunders, H A Feldman, C E Correia, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Heparan sulfate levels in mucopolysaccharidoses and mucolipidosesS Tomatsu, M A Gutierrez, T Ishimaru, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large familyK R Allen, S D Whatley, T J Degg, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfaS Wendt, C Whybra, C Kampmann, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Successful pregnancy in a treated patient with biotinidase deficiencyC J Hendriksz, M A Preece, A ChakrapaniPageof 429