Literature DB >> 6859916

Partial galactose disorders in families with premature cataracts.

A F Winder, L J Claringbold, R B Jones, B S Jay, N S Rice, R D Kissun, I S Menzies, J N Mount.   

Abstract

Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental.

Entities:  

Mesh:

Substances:

Year:  1983        PMID: 6859916      PMCID: PMC1627876          DOI: 10.1136/adc.58.5.362

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


  17 in total

1.  Enzymatic micromethod for measuring galactose-1-phosphate uridylyltransferase activity in human erythrocytes.

Authors:  M A Pesce; S H Bodourian; R C Harris; J F Nicholson
Journal:  Clin Chem       Date:  1977-09       Impact factor: 8.327

2.  A simple spot screening test for galactosemia.

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

3.  Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

Authors:  J D Harley; P Mutton; S Irvine; J D Gupta
Journal:  Lancet       Date:  1974-08-03       Impact factor: 79.321

4.  A rapid simplified assay for galactokinase activity in whole blood.

Authors:  E Beutler; F Matsumoto
Journal:  J Lab Clin Med       Date:  1973-11

5.  Cataracts in galactosemia. The Jonas S. Friedenwald Memorial Lecture.

Authors:  J H Kinoshita
Journal:  Invest Ophthalmol       Date:  1965-10

6.  Galactose tolerance studies of individuals with reduced galactose pathway activity.

Authors:  W J Mellman; B E Rawnsley; C W Nichols; B Needelman; M T Mennuti; J Malone; T A Tedesco
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

7.  Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors:  E Beutler; M C Baluda
Journal:  Clin Chim Acta       Date:  1966-03       Impact factor: 3.786

8.  Galactitol and galactose-1-phosphate in the lens of a galactosemic infant.

Authors:  R Gitzelmann; H C Curtius; I Schneller
Journal:  Exp Eye Res       Date:  1967-01       Impact factor: 3.467

9.  Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.

Authors:  F C Sitzmann; H Kaloud
Journal:  Clin Chim Acta       Date:  1976-11-01       Impact factor: 3.786

10.  Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.

Authors:  J T Prchal; M E Conrad; H W Skalka
Journal:  Lancet       Date:  1978-01-07       Impact factor: 79.321

View more
  5 in total

1.  Inexplicable infantile cataracts and partial maternal galactose disorder.

Authors:  M Brivet; V Abadie; T Soni; G Cheron; J L Dufier
Journal:  Arch Dis Child       Date:  1986-05       Impact factor: 3.791

2.  Plasma polyol levels in patients with cataract.

Authors:  C Jakobs; A C Douwes; M Brockstedt; F Stellaard; W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.

Authors:  V Vetter; Y S Shin
Journal:  Eur J Pediatr       Date:  1995-05       Impact factor: 3.183

4.  Early manifestation of cataract in a child heterozygous for classical galactosaemia and with diabetes mellitus type I: increased plasma mannitol concentration in cataract patients.

Authors:  Y S Shin; K Reiter; A Urban; B Lorenz; W Kiess
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Long term management of congenital cataracts.

Authors:  E C Burns; R B Jones
Journal:  Arch Dis Child       Date:  1985-04       Impact factor: 3.791

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.