Publisher's Synopsis
The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 17 (1994), contain the main lectures presented at the 31st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Manchester, UK, 1993, the theme of which was `From Genotype to Phenotype'.
Topics discussed include: phenotype expression in homocystinuria, human genome mapping and inherited metabolic disease, genetic imprinting, 21-hydroxylase deficiency, dysmorphic disorders and embryogenesis, signals on proteins, peroxisomal disorders, primary hyperoxaluria type I, metachromatic leukodystrophy, and replacement therapy in Gaucher disease.
Participants from many countries provided a state-of-the-art review which will be of interest to clinicians and research workers alike in many different countries.
