Literature DB >> 5039582

Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.

D N Raine, J R Cooke, W A Andrews, D F Mahon.   

Abstract

Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders-an advantage over screening methods which detect only phenylketonuria-the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed a three-fold increase in cases detected and suggests criteria for further investigation and treatment.

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Year:  1972        PMID: 5039582      PMCID: PMC1788502          DOI: 10.1136/bmj.3.5817.7

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


  15 in total

1.  A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.

Authors:  M L EFRON; D YOUNG; H W MOSER; R A MACCREADY
Journal:  N Engl J Med       Date:  1964-06-25       Impact factor: 91.245

2.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

3.  The origin of homocitrulline in the urine of infants.

Authors:  T GERRITSEN; J G VAUGHN; H A WAISMAN
Journal:  Arch Biochem Biophys       Date:  1963-02       Impact factor: 4.013

4.  On the isolation and identification of homocitrulline from urine.

Authors:  T GERRITSEN; S H LIPTON; F M STRONG; H A WAISMAN
Journal:  Biochem Biophys Res Commun       Date:  1961-04-07       Impact factor: 3.575

5.  Influence of phenylalanine intake on phenylketonuria.

Authors:  H BICKEL; J GERRARD; E M HICKMANS
Journal:  Lancet       Date:  1953-10-17       Impact factor: 79.321

6.  A prospective community survey for aminoacidaemias.

Authors:  G M Komrower; M J Griffiths; B Fowler; A M Lambert
Journal:  Proc R Soc Med       Date:  1968-03

7.  Neonatal hyperphenylalaninemia: a differential diagnosis.

Authors:  J H Menkes; N A Holtzman
Journal:  Neuropadiatrie       Date:  1970-04

8.  Detection of urinary abnormalities in a well-baby population: results of a survey.

Authors:  B Turner; D A Brown
Journal:  Med J Aust       Date:  1967-03-18       Impact factor: 7.738

9.  Hyperphenylalanemia without phenylketonuria.

Authors:  M E O'Flynn; P Tillman; D Y Hsia
Journal:  Am J Dis Child       Date:  1967-01

10.  Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.

Authors:  J A Anderson; R Fisch; E Miller; D Doeden
Journal:  J Pediatr       Date:  1966-03       Impact factor: 4.406

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  6 in total

1.  Screening for inherited metabolic disease in Wales using urine-impregnated filter paper.

Authors:  D M Bradley
Journal:  Arch Dis Child       Date:  1975-04       Impact factor: 3.791

2.  Histidinaemia in mouse and man.

Authors:  G Bulfield; H Kacser
Journal:  Arch Dis Child       Date:  1974-07       Impact factor: 3.791

3.  The need for a national policy for the management of inherited metabolic disease.

Authors:  D N Raine
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

4.  Phenylalaninaemia. Differential diagnosis.

Authors:  M E Blaskovics; G E Schaeffler; S Hack
Journal:  Arch Dis Child       Date:  1974-11       Impact factor: 3.791

5.  Neonatal screening for congenital hypothyroidism by measurement of plasma thyroxine and thyroid stimulating hormone concentrations.

Authors:  K D Griffiths; N K Virdi; P H Rayner; A Green
Journal:  Br Med J (Clin Res Ed)       Date:  1985-07-13

6.  Neonatal screening for sickle haemoglobinopathies in Birmingham.

Authors:  K D Griffiths; D N Raine; J R Mann
Journal:  Br Med J (Clin Res Ed)       Date:  1982-03-27
  6 in total

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