Screening and management of potentially treatable genetic metabolic disorders: Proceeding of the Workshop held in London, March 17–18, 1983
Editat de P.F. Bensonen Limba Engleză Paperback – 4 oct 2011
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Specificații
ISBN-13: 9789401089678
ISBN-10: 9401089671
Pagini: 180
Ilustrații: IV, 176 p.
Dimensiuni: 178 x 254 x 9 mm
Greutate: 0.32 kg
Ediția:Softcover reprint of the original 1st ed. 1984
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
ISBN-10: 9401089671
Pagini: 180
Ilustrații: IV, 176 p.
Dimensiuni: 178 x 254 x 9 mm
Greutate: 0.32 kg
Ediția:Softcover reprint of the original 1st ed. 1984
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
Public țintă
ResearchCuprins
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.