Literature DB >> 5945986

Urinary screening tests in the prevention of mental deficiency.

T L Perry, S Hansen, L MacDougall.   

Abstract

A substantial number of genetically determined biochemical disorders in infants and young children produce mental deficiency and serious ill health in early life. If these diseases are detected promptly, effective therapy can be instituted to prevent the development of mental defect, or, where no treatment is presently available, the parents can be given appropriate genetic counselling so that the birth of further affected children can be prevented.Eight simple urine screening tests are described which have proved useful in the early detection of metabolic disorders in apparently healthy infants. These tests can easily be performed by a physician or nurse without special training or elaborate equipment. The attention of general practitioners, pediatricians and public health physicians is directed to the real possibilities for preventing some forms of mental deficiency through the routine use of screening tests on urine and on blood.

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Year:  1966        PMID: 5945986      PMCID: PMC1936717     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  13 in total

1.  STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

Authors:  S HALVORSEN; L R GJESSING
Journal:  Br Med J       Date:  1964-11-07

2.  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

3.  MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY.

Authors:  S E SNYDERMAN; P M NORTON; E ROITMAN; L E HOLT
Journal:  Pediatrics       Date:  1964-10       Impact factor: 7.124

4.  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

5.  FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA.

Authors:  B CHILDS; W L NYHAN
Journal:  Pediatrics       Date:  1964-03       Impact factor: 7.124

6.  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

7.  DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).

Authors:  R G WESTALL
Journal:  Arch Dis Child       Date:  1963-10       Impact factor: 3.791

Review 8.  AMINOACIDURIA.

Authors:  M L EFRON
Journal:  N Engl J Med       Date:  1965-05-27       Impact factor: 91.245

9.  Cystathioninuria: nature of the defect.

Authors:  G W Frimpter
Journal:  Science       Date:  1965-09-03       Impact factor: 47.728

10.  The long term management of hepatolenticular degeneration (Wilson's disease).

Authors:  I H SCHEINBERG; I STERNLIEB
Journal:  Am J Med       Date:  1960-08       Impact factor: 4.965

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  8 in total

1.  Screening for metabolic disorders in children--aminoacidopathies.

Authors:  O S Reddi
Journal:  Indian J Pediatr       Date:  1977-02       Impact factor: 1.967

Review 2.  Management of inherited metabolic disease.

Authors:  D N Raine
Journal:  Br Med J       Date:  1972-05-06

3.  Set of simple side-room urine tests for detection of inborn errors of metabolism.

Authors:  N R Buist
Journal:  Br Med J       Date:  1968-06-22

4.  Editorial: A new inborn error of metabolism.

Authors: 
Journal:  Br J Ophthalmol       Date:  1974-01       Impact factor: 4.638

5.  Genetic aspects of tyrosinemia in the Chicoutimi region.

Authors:  C Laberge; L Dallaire
Journal:  Can Med Assoc J       Date:  1967-10-28       Impact factor: 8.262

6.  Urinary phenolic acid and alcohol excretion in the newborn.

Authors:  F Karoum; C R Ruthven; M Sandler
Journal:  Arch Dis Child       Date:  1975-08       Impact factor: 3.791

7.  Detection of inherited metabolic diseases in children with mental handicap.

Authors:  Chetna Bhatt; Zarangis Misra; Neelam Goyel
Journal:  Indian J Clin Biochem       Date:  2008-03-06

8.  Results of selective screening for inborn errors of metabolism in the former East Germany.

Authors:  G Machill; U Grimm; I Ahlbehrendt; P Bührdel; W Tittelbach-Helmrich; A Naumann; H J Böhme; G Seidlitz; T Schneider
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

  8 in total

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