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Screening and management of potentially treatable genetic metabolic disorders : proceedings of the workshop held in London, March 17-18, 1983

Author: P F Benson; Commission of the European Communities. Committee on Medical and Public Health Research.
Publisher: Lancaster [Lancashire] ; Boston : MTP Press Ltd. for the Commission of the European Communities, ©1984.
Series: EUR, 9020.
Edition/Format:   Print book : Conference publication : EnglishView all editions and formats
Summary:

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.

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Genre/Form: Congresses
Kongress
Conference papers and proceedings
Additional Physical Format: Online version:
Screening and management of potentially treatable genetic metabolic disorders.
Lancaster [Lancashire] ; Boston : MTP Press Ltd. for the Commission of the European Communities, ©1984
(OCoLC)562496613
Material Type: Conference publication
Document Type: Book
All Authors / Contributors: P F Benson; Commission of the European Communities. Committee on Medical and Public Health Research.
ISBN: 0852007841 9780852007846
OCLC Number: 10348644
Notes: "Sponsored by the Commission of the European Communities, as advised by the Committee on Medical and Public Health Research."
Description: 176 pages : illustrations ; 26 cm.
Contents: 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.
Series Title: EUR, 9020.
Responsibility: edited by P.F. Benson.

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