The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 16 (1993) contain the main lectures presented at the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Leuven, Belgium, 1992, which was dedicated to Inherited Metabolic Diseases and the Brain'. Topics discussed included: Inborn errors and brain fluids, neurotransmitter disorders, inborn errors and demyelination, and recent developments. Participants from many countries provided a state-of-the-art review which will be of interest to clinicians and research workers alike in many...
The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 16 (1993) contain the main lectures presented at the 30th Annual Symposium o...
With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue...
With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and morta...
The first symposium of the Society for the Study ofInborn valuable overview of advances in the application of Errors of Metabolism (SSIEM) on the organic acid urias chemical analysis of amniotic fluid to their early prenatal was held in Leeds in 1971 and published by the Society in diagnosis. The continuing complexity of diagnosis, 1972 (the 9th Annual SSIEM Symposium). Although biochemistry and aetiology ofthe dicarboxylic acid urias relatively few of these disorders were recognized at that has been admirably reduced by the papers from Dr time, the symposium was prompted by the then recent...
The first symposium of the Society for the Study ofInborn valuable overview of advances in the application of Errors of Metabolism (SSIEM) on the orga...
captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the years, embrace many of the major aspects of the study of inborn errors of metabolism and can, particularly with the Short Communications section, be used as a way into the literature on specific new topics. We hope that with judicious selection of material these supplements will continue to provide, as did the Society's earlier annual publications, a balanced record of the present state of the subject in all its facets, a record of interest to...
captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the...
together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current status of this Study ofInborn Errors of Metabolism was held in Cardiff field. The difficulty in establishing an uneq uivocal clinical and the proceedings published in 1973. The meeting was devoted to the treatment of inborn errors of metabolism; response to vitamin treatment was discussed by Dr in particular the dietary treatment of phenylketonuria Leonard. The papers on biotin-responsive combined and vitamin responsive disorders were reviewed....
together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current...