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1.
Clin Chim Acta ; 131(1-2): 123-8, 1983 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-6883704

RESUMEN

Riboflavin status was studied in 156 older healthy people living at home in The Netherlands by assaying erythrocyte glutathione reductase (with and without FAD). The average activation coefficient of glutathione reductase was found to be 1.42 +/- 0.19. 7% of the population studied showed cataract (based on the eye examination). It seems that no correlation exists between cataract and riboflavin deficiency.


Asunto(s)
Catarata/sangre , Glutatión/sangre , Anciano , Eritrocitos/análisis , Femenino , Glutatión Reductasa/sangre , Humanos , Masculino
2.
J Pediatr Ophthalmol ; 14(4): 205-12, 1977.
Artículo en Inglés | MEDLINE | ID: mdl-894443

RESUMEN

Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.


Asunto(s)
Catarata/etiología , Síndrome Oculocerebrorrenal/complicaciones , Defectos Congénitos del Transporte Tubular Renal/complicaciones , Catarata/genética , Preescolar , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Síndrome Oculocerebrorrenal/genética , Linaje , Aberraciones Cromosómicas Sexuales
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