Literature DB >> 3126351

Registers for inherited metabolic diseases.

J B Holton1.   

Abstract

The use of a register for inherited metabolic diseases has many potential benefits, but it is particularly important to define clear objectives, to ensure that the design of the register should allow these objectives to be achieved and to take account of the many problems which may be encountered. The possibility that there may be alternative ways of achieving the same results should be considered.

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Year:  1987        PMID: 3126351     DOI: 10.1007/bf01799972

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  6 in total

1.  A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party.

Authors:  A E Emery; C Brough; M Crawfurd; P Harper; R Harris; G Oakshott
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

2.  Treatment of Phenylketonuria.

Authors: 
Journal:  Br Med J       Date:  1963-06-29

Review 3.  Registers and registries: a review.

Authors:  J M Weddell
Journal:  Int J Epidemiol       Date:  1973       Impact factor: 7.196

4.  The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  S H Mudd; F Skovby; H L Levy; K D Pettigrew; B Wilcken; R E Pyeritz; G Andria; G H Boers; I L Bromberg; R Cerone
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

5.  Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.

Authors:  R R Lenke; H L Levy
Journal:  N Engl J Med       Date:  1980-11-20       Impact factor: 91.245

6.  Collaborative study of children treated for phenylketonuria: study design.

Authors:  M Williamson; J C Dobson; R Koch
Journal:  Pediatrics       Date:  1977-12       Impact factor: 7.124

  6 in total

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