Mutation analysis in metabolic disease – change in clinical practice? Johannes ZschockeBeat SteinmannGeorg F. Hoffmann PREFACE Pages: S169 - S169
Hereditary deafness: lessons for developmental studies and genetic diagnosis Andrew P. Read REVIEW Pages: S232 - S235
Disease-causing mutations in the human genome Stylianos E. AntonarakisMichael KrawczakDavid N. Cooper REVIEW Pages: S173 - S178
Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis Manfred StuhrmannNotker GrafJörg Schmidtke REVIEW Pages: S186 - S191
Bridging the gap between molecular genetics and metabolic medicine: access to genetic information Ségolène Aymé REVIEW Pages: S183 - S185
The molecular basis of ornithine transcarbamylase deficiency Mendel TuchmanBeth A. McCulloughMarc Yudkoff ORIGINAL PAPER Pages: S196 - S198
Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype Linda A. Tyfield REVIEW Pages: S204 - S207
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations Niels GregersenBrage Storstein AndresenPeter Bross REVIEW Pages: S213 - S218
Nuclear genes and oxidative phosphorylation disorders: a review Jan A. M. SmeitinkRob C. A. SengersLambert P. van den Heuvel REVIEW Pages: S227 - S231
Mutation analysis in metabolic (and other genetic) disease: how soon, how useful Charles R. Scriver REVIEW Pages: S243 - S245
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model Michael M. Kaback ORIGINAL PAPER Pages: S192 - S195
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine β-synthase and 5,10-methylenetetrahydrofolate reductase Henk J. Blom REVIEW Pages: S208 - S212