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  • Produktbild: Organic Acidurias
  • Produktbild: Organic Acidurias

Organic Acidurias Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984)

49,99 €

inkl. gesetzl. MwSt., Versandkostenfrei

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

10.01.2012

Abbildungen

166 p.

Herausgeber

G.M. Addison + weitere

Verlag

Springer Netherland

Seitenzahl

166

Maße (L/B/H)

29,7/21/1 cm

Gewicht

464 g

Auflage

Softcover reprint of the original 1st ed. 1984

Sprache

Englisch

ISBN

978-94-010-8975-3

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

10.01.2012

Abbildungen

166 p.

Herausgeber

Verlag

Springer Netherland

Seitenzahl

166

Maße (L/B/H)

29,7/21/1 cm

Gewicht

464 g

Auflage

Softcover reprint of the original 1st ed. 1984

Sprache

Englisch

ISBN

978-94-010-8975-3

Herstelleradresse

Springer-Verlag KG
Sachsenplatz 4-6
1201 Wien
AT

Email: ProductSafety@springernature.com

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  • Produktbild: Organic Acidurias
  • Produktbild: Organic Acidurias
  • Preface.- Section I: Clinical aspects: management and outcome.- Neonatal management of organic acidurias. Clinical update (Hudson Memorial Lecture).- Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).- The management and long term outcome of organic acidaemias.- Prenatal diagnosis of the organic acidurias.- Symptoms and signs in organic acidurias.- Section II: Dicarboxylic acidurias and acyl-CoA dehydrogenase deficiencies.- Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.- Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).- Carnitine metabolism and inborn errors.- Gas chromatography—mass spectrometry (GC—MS) diagnosis of 2 cases of medium chain acyl-CoA dehydrogenase deficiency.- The differential diagnosis of dicarboxylic aciduria.- Animal models for dicarboxylic aciduria.- Section III: Disorders of the respiratory chain and the lactic acidaemias.- Mitochondrial oxidative phosphorylation and respiratory chain: review.- Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.- Lactic acidaemia.- Pyruvate carboxylase deficiency.- Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.- Section IV: A new disorder: 4-hydroxybutyric aciduria.- Clinical review.- Biochemical findings.- Enzymology and mode of inheritance.- Section V: Short Communications.- Preface to Short Communications.- Free Communications.- Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria.- Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient ?-oxidation in fibroblasts.- GlutarylCoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.- Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl-CoA in patient and control cell lines.- Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates.- L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.- An evaluation of urine lactate for detection of inborn errors of metabolism.- Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh’s disease.- Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.- 3-Hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.- Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.- Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.- Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.- Organic acids in urine: sample preparation for GC/MS.- Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria.- Methylmalonic aciduria with homocystinuria.- Two cases of ß-ketothiolase deficiency: a comparison.- L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families.- The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC—MS assay for succinylacetone.- The enzymedefects in hereditary tyrosinaemia type I.- The possibility for prenatal diagnosis of PKU by linkage analyses based on phenylalanine hydroxylase locus specific DNA-polymorphisms.- Complementation between argininosuccinate synthetase-deficient and argininosuccinate lyase-deficient fibroblasts depends on intercellular communication.- Molecular lesion of non-ketotic hyperglycinaemia.- Prolidase deficiency: detection of cases by a newborn urinary screening programme.- Type Ib glycogen storage disease: an in vivo and in vitro study of two cases.- The lactate concentration of the urine, a parameter for the adequacy of dietary treatment of patients with glucose-6-phosphatase deficiency.- Sorbitol dehydrogenase deficiency in a family with congenital cataracts.- Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?.- Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms.- Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.- Steroid sulphatase deficiency is present in patients with the syndrome’ ichthyosis and male hypogonadism’ and with’ Rud syndrome’.