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Journal of Inherited Metabolic Disease|January 1, 1978
Phenylketonuria in Indian childrenG E Joshua, S Chandy, A N Radhakrishnan, et al.Journal of Inherited Metabolic Disease|January 1, 1978
Fructose load test--an in vivo screening test designed to assess pyruvate dehydrogenase activity and interconversionD Stansbie, R J Sherriff, R M DentonJournal of Inherited Metabolic Disease|August 7, 2001
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defectsW Onkenhout, V Venizelos, H R Scholte, et al.Journal of Inherited Metabolic Disease|August 7, 2001
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skippingM Skrygan, B Bartholomé, L Bonafé, et al.Journal of Inherited Metabolic Disease|August 7, 2001
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiencyH S Kalkanoğlu, T Coşkun, S D Aydoğdu, et al.Journal of Inherited Metabolic Disease|August 7, 2001
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27)S Sugama, A Kimura, W Chen, et al.Journal of Inherited Metabolic Disease|June 19, 2001
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disordersY Suzuki, N Shimozawa, A Imamura, et al.Journal of Inherited Metabolic Disease|June 19, 2001
Import of proteins into mitochondria: a novel pathomechanism for progressive neurodegenerationM F Bauer, W NeupertJournal of Inherited Metabolic Disease|June 19, 2001
Liver repopulation for the treatment of metabolic diseasesM GrompePageof 429