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Journal of Inherited Metabolic Disease|January 1, 1984
Substrate specificity of manganese-activated prolidase in control and prolidase-deficient cultured skin fibroblastsJ Butterworth, D PriestmanJournal of Inherited Metabolic Disease|June 1, 1997
Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusiveP N Strong, B S BrewsterJournal of Inherited Metabolic Disease|June 1, 1997
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolismW L NyhanJournal of Inherited Metabolic Disease|June 1, 1997
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiencyM GrossJournal of Inherited Metabolic Disease|June 1, 1997
Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiencyG Van den Berghe, M F Vincent, J JaekenJournal of Inherited Metabolic Disease|June 1, 1997
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspectsA H van Gennip, N G Abeling, P Vreken, et al.Journal of Inherited Metabolic Disease|June 1, 1997
When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indicationsH A Simmonds, J A Duley, L D Fairbanks, et al.Journal of Inherited Metabolic Disease|June 1, 1997
The natural history of vascular disease in homocystinuria and the effects of treatmentD E Wilcken, B WilckenJournal of Inherited Metabolic Disease|January 1, 1980
Keratan sulphate excretion in a patient with Kniest dysplasiaC A Pennock, I R Gordon, K Longdon, et al.Journal of Inherited Metabolic Disease|January 1, 1994
High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblastsV S Akhunov, T V Mirenburg, X D KrasnopolskayaPageof 429