Literature DB >> 7957380

Quality control for selective screening of inborn errors of metabolism.

F A Hommes1.   

Abstract

A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical results but to give an interpretation of the results as well. Sixteen rounds of testing have been completed. A slow, but definite improvement in performance can be observed.

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Year:  1994        PMID： 7957380     DOI： 10.1007/BF02138772

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  4 in total

1.  Results of a quality assurance exercise for urinary glycosaminoglycan excretion.

Authors:  A Brimble; C Pennock; J Stone
Journal:  Ann Clin Biochem       Date:  1990-03       Impact factor: 2.057

2.  A survey of the accuracy of chemical analyses in clinical laboratories.

Authors:  W P BELK; F W SUNDERMAN
Journal:  Am J Clin Pathol       Date:  1947-11       Impact factor: 2.493

3.  Screening tests for glycosaminoglycans in urine: experience from regional interlaboratory surveys.

Authors:  J M Rattenbury; E Worthy; J C Allen
Journal:  J Clin Pathol       Date:  1988-09       Impact factor: 3.411

4.  Genetic disorders in children and young adults: a population study.

Authors:  P A Baird; T W Anderson; H B Newcombe; R B Lowry
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025
  4 in total
  4 in total

1.  Qualitative urinary organic acid analysis: methodological approaches and performance.

Authors:  V Peters; S F Garbade; C D Langhans; G F Hoffmann; R J Pollitt; M Downing; J R Bonham
Journal:  J Inherit Metab Dis       Date:  2008-11-07       Impact factor: 4.982

2.  Qualitative urinary organic acid analysis: 10 years of quality assurance.

Authors:  Verena Peters; James R Bonham; Georg F Hoffmann; Camilla Scott; Claus-Dieter Langhans
Journal:  J Inherit Metab Dis       Date:  2016-05-04       Impact factor: 4.982

Review 3.  Selective screening for inborn errors of metabolism--past, present and future.

Authors:  G F Hoffmann
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

4.  CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.

Authors:  Devin Oglesbee; Tina M Cowan; Marzia Pasquali; Timothy C Wood; Karen E Weck; Thomas Long; Glenn E Palomaki
Journal:  Genet Med       Date:  2017-06-29       Impact factor: 8.822
  4 in total

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