- Inbunden (Hardback)
- Antal sidor
- Reprinted from `JOURNAL OF INHERITED METABOLIC DISEASE', 12, 1989
- 408 p.
- Antal komponenter
- 1 Hardback
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Studies in Inherited Metabolic Disease
Prenatal and Perinatal Diagnosis
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Preface.- Perspectives Family influences on A. E. Garrod's thinking.- The salience of Garrod's `molecular groupings' and `inborn factors in disease'.- Prenatal and perinatal diagnosis.- Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.- Acute metabolic encephalopathy: a review of causes, mechanisms and treatment.- A clinician's view of the mass screening of the newborn for inherited diseases: current practice and future considerations.- A clinical biochemist's view of the investigation of suspected inherited metabolic disease.- Genetic aspects of prenatal diagnosis.- Obstetric aspects of prenatal diagnostic methods.- Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.- Prenatal and perinatal diagnosis of peroxisomal disorders.- Prenatal diagnosis and prevention of inherited abnormalities of collagen.- Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field.- Prospects for gene therapy now and in the future.- Prenatal diagnosis of disorders of galactose metabolism.- Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.- Disorders of mitochondrial ?-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.- Gene mapping of mineral metabolic disorders.- Short Communications.- Preface and Free Communications.- Fifteen years of prenatal diagnosis of inherited metabolic diseases: the Lyon experience.- A survey on prenatal diagnosis of inherited metabolic diseases in Japan.- Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: the Edinburgh experience.- Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years' experience.- Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.- Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.- First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).- Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.- First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.- Enzymatic prenatal diagnosis of primary hyperoxaluria type 1: potential and limitations.- First trimester diagnosis of glycogen storage disease type II and type III.- First trimester prenatal diagnosis of glycogen storage disease type III.- Prenatal diagnosis of atypical phenylketonuria.- First trimester prenatal diagnosis of Wolman disease.- Prenatal diagnosis of Zeliweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy.- Prenatal diagnosis of cystic fibrosis: experience of two complementary methods.- Prenatal diagnosis of cystic fibrosis using closely linked DNA probes.- Plasma amino acids during the first 24 hours of life: feasibility of early diagnosis in the newborn at risk of amino acid disorders.- Perinatal diagnosis of type 1c glycogen storage disease.- A `blood spot' androstenedione radioimmunoassay able to detect congenital adrenal hyperplasia.- Generalized dicarboxylic aciduria: a common finding in neonates.- Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of mediumchain acyl-CoA dehydrogenase deficiency.- Aspartoacylase deficiency: the enzyme defect in Canavan disease.- Iatrogenic skin lesions in phenylketonuric children due to a low tyrosine intake.- Primapterinuria: a new variant of atypical phenylketonuria.- Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.- Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaernia.- A method for the diagnosis of glycogen storage disease type Ib using polymorph