Studies in Inherited Metabolic Disease
Springer (Verlag)
978-0-7923-8916-3 (ISBN)
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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 polymorphonuclear leukocytes.- Familial NADH: Q1 oxidoreductase (complex 1) deficiency: variable expression and possible treatment.- Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.- Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein.- Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.- The heterogeneity of Leber’s congenital amaurosis.- Hurler-Scheie phenotype associated with consanguinity.- Detection of Fabry’s disease carriers by enzyme assay of hair roots.- Immunohistochemical demonstration of GM2-ganglioside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease.- Visualization of the sugar moiety in lymphoid cell lines from Fabry’s disease by lectin binding.- Identification of intact dolichol-linked oligosaccharides in the brains of patients with ceroidlipofuscinosis (Batten’s disease).- Study of pathogenesis in twicher mouse, an enzymatically authentic model of human Krabbe’s disease.- Nuclear magnetic resonance brain study in a case of Wilson disease.- Vitamin C treatment in Menkes’ disease: failure to affect biochemical and clinical parameters.- Copper histidinate therapy in Menkes’ disease: prevention of progressive neurodegeneration.
| Zusatzinfo | 408 p. |
|---|---|
| Verlagsort | Dordrecht |
| Sprache | englisch |
| Gewicht | 840 g |
| Themenwelt | Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie | |
| Naturwissenschaften ► Biologie ► Biochemie | |
| ISBN-10 | 0-7923-8916-6 / 0792389166 |
| ISBN-13 | 978-0-7923-8916-3 / 9780792389163 |
| Zustand | Neuware |
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