Medico-Social Management of Inherited Metabolic Disease

A Monograph Derived from The Proceedings of the Thirteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

Häftad, Engelska, 2012

739 kr

Beställningsvara. Skickas inom 10-15 vardagar

Fri frakt för medlemmar vid köp för minst 249 kr.

The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life.

Produktinformation

Utgivningsdatum2012-03-12
Mått155 x 235 x 20 mm
Vikt492 g
FormatHäftad
SpråkEngelska
Antal sidor310
FörlagSpringer
ISBN9789401161756

Tillhör följande kategorier

Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

The Nature and Size of the Problem.- 1 The need for a national policy for the management of inherited metabolic disease.- 2 Genetic screening and allied services: structure, process and objective.- Present Methods of Management.- 3 The role of the paediatrician.- 4 Management of dietary treatment in the home.- 5 Residential management.- Community Reaction to Present Practice.- 6 Parent reaction to medical care and screening.- 7 Screening for Tay—Sachs disease.- 8 Genetic counselling clinics.- 9 The coming of the second genetic code: eugenic abortion in the United Kingdom.- Aspects of Management Requiring Central Policy.- 10 The basis for prescriptive screening.- 11 Resources for nutritional treatment: basic principles and a national ‘Food Bank’.- 12 Detection of heterozygotes.- 13 Prenatal diagnosis.- 14 The phenylketonuria register for the United Kingdom.- 15 Computerized central registers.- 16 Mechanized storage and retrieval of information.- 17 Computer-aided diagnosis of inherited metabolic disease.- The Fourth Milner Lecture.- 18 The biochemical autopsy: a tool for studies of genetically-determined brain disorders.