Titlebook: Studies in Inherited Metabolic Disease; Prenatal and Perinat G. M. Addison,J. M. Connor,R. J. Pollitt Book 1989 SSIEM and Kluwer Academic P

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Preface to Short Communicationsy for the Study of Inborn Errors of Metabolism held in Glasgow, 6–9th September 1988. The main topic of the symposium was pre- and perinatal diagnosis. The contributions of the invited speakers were complemented by many of the oral and poster free communications which dealt with pre- or perinatal di

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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 scient

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Genetic Aspects of Prenatal Diagnosiserious genetic conditions. This is exemplified by the impact of the maternal serum α-fetoprotein screening programme for neural tube defects and is under active development for autosomal aneuploidies and certain other major congenital malformations. These screening programmes will result in a reduce

Hyperlipidemia

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Prenatal and Perinatal Diagnosis of Peroxisomal Disordersand acatalasaemia..A variety of techniques is available now for the prenatal diagnosis of peroxisomal disorders in the first or second trimester of gestation. Prenatal diagnosis was performed by us in 70 pregnancies at risk for a disorder of peroxisome biogenesis, three for rhizomelic chondrodysplas

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Prenatal Diagnosis of Duchenne Muscular Dystrophy: A Three-year Experience in a Rapidly Evolving Fieprobes and/or technologies has necessitated constant reappraisal of many families to derive maximum information. During the past 3 years we applied prenatal diagnosis for Duchenne and Becker muscular dystrophies with DNA-analysis on 53 male fetuses in 47 families. Twenty-two healthy male babies were

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Disorders of Mitochondrial β-Oxidation: Prenatal and Early Postnatal Diagnosis and their Relevance t experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium-chain acyl-CoA dehydrogenase deficiency and of an incompletely characterized defect of medium-chain fatty acid oxidation have been performed.

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Book 1989erviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene

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