Screening and management of potentially treatable genetic metabolic disorders

Proceeding of the Workshop held in London, March 17–18, 1983

Häftad, Engelska, 2011

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1 The success of early diagnosis and therefore of treatment of phe nylketonuria, inevitably suggests the possibility of early screening and treatment of other genetic metabolic abnormalities.

Produktinformation

Utgivningsdatum2011-10-04
Mått178 x 254 x 11 mm
Vikt351 g
FormatHäftad
SpråkEngelska
Antal sidor176
FörlagSpringer
ISBN9789401089678

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1 Introduction.- 2 Screening for cystic fibrosis.- 3 Classification and management of glycoprotein in storage diseases.- 4 The oligosaccharidoses: current state of knowledge on some of the entities.- 5 Selective screening for organic acidurias in the Federal Republic of Germany.- 6 Immunological approaches to the diagnosis of lysosomal storage diseases and heterozygote detection.- 7 Treatment of lysosomal storage diseases by enzyme administration.- 8 Treatment of lysosomal storage diseases by bone marrow transplantation.- 9 Red cell enzymopathies: management and screening.- 10 A new, sensitive method for measuring low-density lipoproteins and its application to the screening for hyperlipoproteinemia.- 11 Diagnosis and treatment of tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).- 12 Diagnostic and metabolic investigation and treatment of the acutely ill new born with particular reference to some of the inborn errors of metabolism.- 13 Diagnosis and management of the urea cycle enzymopathies.- 14 Dietary treatment of children with liver glycogenosis.