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

Langue : anglais

Edité par Springer, Springer Sep 2011, 2011

9401083320 / 9789401083324

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A propos de cet article

This item is printed on demand - Print on Demand Titel. Neuware -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 phosphoryla.…

N° de réf. du vendeur 9789401083324

Détails bibliographiques

Titre
Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia
Auteur
G. M. Addison
Éditeur
Springer, Springer Sep 2011
Année de publication
2011
État de l'article
Neu
Reliure
Taschenbuch
Langue
anglais
ISBN à 10 chiffres
9401083320
ISBN à 13 chiffres
9789401083324
Poids de l'article
534 grammes
Dimensions
235x155x20 mm

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