Literature DB >> 606167

Diagnosis of classical galactosaemia.

A M Monk, A J Mitchell, D W Milligan, J B Holton.   

Abstract

We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.

Entities:  

Mesh：

Substances：

Year:  1977        PMID： 606167      PMCID： PMC1545032          DOI： 10.1136/adc.52.12.943

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Variability in the clinical manifestations of galactosemia.

Authors:  D Y HSIA; F A WALKER
Journal:  J Pediatr       Date:  1961-12       Impact factor: 4.406

2.  Letter: Decrease of HB-s Ag titers after repeated freezing and thawing.

Authors:  M Schlaak; H Lehmann; H Schläfer
Journal:  N Engl J Med       Date:  1975-04-24       Impact factor: 91.245

3.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

4.  A simple spot screening test for galactosemia.

Authors:  E Beutler; M C Baluda
Journal:  J Lab Clin Med       Date:  1966-07

5.  Letter: Negative urine sugars in galactosemia.

Authors:  R C Harris
Journal:  Pediatrics       Date:  1974-05       Impact factor: 7.124

6.  Galactosemia screening of newborns in Massachusetts.

Authors:  V E Shih; H I Levy; V Karolkewicz; S Houghton; M L Efron; K J Isselbacher; E Beutler; R A MacCready
Journal:  N Engl J Med       Date:  1971-04-08       Impact factor: 91.245
  6 in total
  3 in total

1.  Is unselective biochemical urine testing cost effective?

Authors:  J F Zilva
Journal:  Br Med J (Clin Res Ed)       Date:  1985-08-03

2.  Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Authors:  M M Honeyman; A Green; J B Holton; J V Leonard
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

3.  Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

Authors:  J B Holton; M G Gillett; R MacFaul; R Young
Journal:  Arch Dis Child       Date:  1981-11       Impact factor: 3.791
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.