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

Proceedings of the 23rd Annual Symposium of the SSIEM, Liverpool, September 1985

AvG.M. Addison,R. Angus Harkness

Häftad, Engelska, 2011

573 kr

Beställningsvara. Skickas inom 10-15 vardagar. Fri frakt över 249 kr.

Produktinformation

Utgivningsdatum:2011-09-27
Mått:155 x 235 x 22 mm
Vikt:540 g
Format:Häftad
Språk:Engelska
Antal sidor:352
Förlag:Springer
ISBN:9789401083324

Utforska kategorier

Kemi inom Naturvetenskap och teknik
Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Innehållsförteckning

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 ofphenylalanine 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 theglucose-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 abnormalitiesin rhizomelic chondrodysplasia punctata.- Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome).

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

Proceedings of the 23rd Annual Symposium of the SSIEM, Liverpool, September 1985

AvG.M. Addison,R. Angus Harkness

Häftad, Engelska, 2011

573 kr

Beställningsvara. Skickas inom 10-15 vardagar. Fri frakt över 249 kr.

Produktinformation

Utgivningsdatum:2011-09-27
Mått:155 x 235 x 22 mm
Vikt:540 g
Format:Häftad
Språk:Engelska
Antal sidor:352
Förlag:Springer
ISBN:9789401083324

Utforska kategorier

Kemi inom Naturvetenskap och teknik
Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Innehållsförteckning

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 ofphenylalanine 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 theglucose-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 abnormalitiesin rhizomelic chondrodysplasia punctata.- Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome).