Literature DB >> 497752

The Manchester regional screening programme: a 10-year exercise in patient and family care.

G M Komrower, I B Sardharwalla, B Fowler, C Bridge.   

Abstract

Up to the end of 1978 the Willink Biochemical Genetics Unit had screened 506821 babies for metabolic abnormalities over 10 years--98-99% of the children born in the region. Sixty-nine cases of phenylketonuria (PKU), 42 cases of histidinaemia, and six cases of homocystinuria were detected. As well as treating affected children, the staff of the unit have concentrated on providing full support for their families and maintaining good communications with parents, general practitioners, health visitors, and midwives. A clinic liaison sister has provided valuable support for health visitors and an important link between the unit and community services. A study of the costs of screening and treating cases of PKU for the year 1978 showed that this was cheaper, by pound 569000, than the costs of looking after patients with untreated PKU.

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Year:  1979        PMID: 497752      PMCID: PMC1596331          DOI: 10.1136/bmj.2.6191.635

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


  3 in total

1.  APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES.

Authors:  C R SCRIVER; E DAVIES; A M CULLEN
Journal:  Lancet       Date:  1964-08-01       Impact factor: 79.321

2.  The philosophy and practice of screening for inherited diseases.

Authors:  G M Komrower
Journal:  Pediatrics       Date:  1974-02       Impact factor: 7.124

3.  Management of maternal phenylketonuria: an emerging clinical problem.

Authors:  G M Komrower; I B Sardharwalla; J M Coutts; D Ingham
Journal:  Br Med J       Date:  1979-05-26
  3 in total
  5 in total

1.  A clinician's view of the mass screening of the newborn for inherited diseases: current practice and future considerations.

Authors:  I B Sardharwalla; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria.

Authors:  J Lord; M J Thomason; P Littlejohns; R A Chalmers; M D Bain; G M Addison; A H Wilcox; C A Seymour
Journal:  J Epidemiol Community Health       Date:  1999-03       Impact factor: 3.710

3.  Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

Authors:  N M Ghiasvand; A Aledavood; R Ghiasvand; F Seyedin Borojeny; A R Aledavood; S Seyed; W Miner; G R Saeb Taheri
Journal:  J Inherit Metab Dis       Date:  2009-09-19       Impact factor: 4.982

4.  Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register.

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Journal:  Br Med J (Clin Res Ed)       Date:  1981-05-23

Review 5.  Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Authors:  Andrew A M Morris; Viktor Kožich; Saikat Santra; Generoso Andria; Tawfeg I M Ben-Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Markéta Pavlíková; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman
Journal:  J Inherit Metab Dis       Date:  2016-10-24       Impact factor: 4.982

  5 in total

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