Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia: Proceedings of

ISBN-13: 9789401083324 / Angielski / Miękka / 2011 / 352 str.

G. M. Addison; R. Angus Harkness; D. M. Isherwood

Spis treści

The 23rd Annual Symposium of the SSIEM: Liverpool.- to recombinant DNA.- Human biochemical genetics of enzyme proteins in the new age of molecular genetics.- Direct DNA analysis in family studies.- Application and limitations of direct DNA analysis in genetic prediction.- DNA analysis for ornithine transcarbamylase deficiency.- Molecular genetics of PKU.- Human DNA repair defects.- Molecular basis of ai-antitrypsin deficiency and its potential therapy by gene transfer.- Direct alteration of a gene in the human genome.- Diabetes mellitus, atherosclerosis, and the 5’ flanking polymorphism of the human insulin gene.- Workshop on Screening for Congenital Adrenal Hyperplasia (steroid 21-hydroxylase deficiency).- Clinical aspects of congenital adrenal hyperplasia: early diagnosis and prognosis.- Biochemical aspects of congenital adrenal hyperplasia.- Large-Scale Pilot Studies.- Review of CAH screening programmes and the Scottish experience.- Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population.- Neonatal screening for congenital adrenal hyperplasia: a pilot study in France.- Existing Clinical Diagnoses.- Congenital adrenal hyperplasia in Birmingham: a retrospective analysis (1958-1985).- Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study.- Clinical Symposium - Phenylketonuria.- and explanation.- Maternal phenylketonuria.- Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function.- Diagnosis in relationship to treatment of hyperphenylalaninaemia.- Problems related to diet management of maternal phenylketonuria.- Short Communications.- Preface and Free Communications.- Molecular biology of phenylalanine hydroxylase.- Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patients.- Phenylalanine metabolites in treated phenylketonuric children.- Magnesium-deficient rickets in a phenylketonuric patient on dietary treatment.- Termination of strict diet in phenylketonuria: neurophysiological, psychological and biochemical studies.- Effects of stopping phenylalanine-restricted diet on intellectual progress of children with phenylketonuria.- Maternal hyperphenylalaninaemia: dietary treatment during pregnancy.- Maternal hyperphenylalaninaemia in Israel.- Maternal phenylketonuria with increased tyrosine supplements.- Screening for phenylketonuria in Yugoslavia (SR Croatia) 1979–1984.- Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population.- Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family.- Dihydropteridine reductase deficiency: clinical, biochemical and therapeutic aspects.- Partial dihydropteridine reductase deficiency and mental retardation.- Urine amino acid analysis by HPLC in the investigation of inborn errors of metabolism.- Plasma amino acid patterns in critically ill children.- Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution.- Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia.- A new case of hyperlysinaemia with saccharopinuria.- Failure of early diazepam treatment in a neonate with non-ketotic hyperglycinaemia.- Gyrate atrophy of the choroid and retina: 3 cases in one Italian family.- Methylenetetrahydrofolate reductase and methyltetrahydrofolate methyltransferase in human fetal tissues and chorionic villi.- Kinetic studies on the glucose-6-phosphate transport system in rat hepatic microsomal membrane.- Long term cornstarch therapy in glycogen storage disease types I, lb and III.- Galactose-l-phosphate-uridyl transferase activity in chorionic villi: a first trimester prenatal diagnosis of galactosaemia.- Molecular heterogeneity of McArdle disease.- Decreased affinity of phosphorylase ? for glucose-1 -phosphate in polymorphonuclear leukocytes of patients with glycogenosis type VI.- The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: overnight fasting does not result in the expected urinary metabolite profile.- A new case of familiar C6-C14 dicarboxylic aciduria with favourable evolution.- Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficiency patient.- Neonatal screening for biotinidase deficiency: an update.- GM2 gangliosidosis with hexosaminidase A and B defect: report of a family with motor neuron disease-like phenotype.- A comparison between hepatocytes and macrophages of sphingomyelin, cholesterol and acid lipase in various types of Niemann-Pick disease.- Juvenile dystonia without vertical gaze paralysis: Niemann-Pick type C disease.- Pre- and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts.- Impaired cholesterol side chain cleavage activity in liver from patients with cerebro- hepato-renal (Zellweger) syndrome in relation to the accumulation of di- and trihydroxycoprostanoic acid in serum.- Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile Refsum’s disease.- Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata.- Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome).