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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 218-220 
    ISSN: 1432-1076
    Keywords: Vitamin B12 ; Methylmalonic aciduria ; Newborn screening ; Cobalamin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breastfed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 80 (1990), S. 234-240 
    ISSN: 1432-2242
    Keywords: Erucic acid ; Fatty acid desaturation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A diverse collection of mutants of Arabidopsis with altered seed lipid compositions was isolated by determining the fatty acid composition of samples of seed from 3,000 mutagenized lines. A series of mutations was identified that caused deficiencies in the elongation of 18∶1 to 20∶1, desaturation of 18∶1 to 18∶2, and desaturation of 18∶2 to 18∶3. In each of these cases the wild type exhibited incomplete dominance over the mutant allele. These results, along with results from earlier studies, point to a major influence of gene dosage in determining the fatty acid composition of seed lipids. A mutation was also isolated that resulted in increased accumulation of 18∶3. On the basis of the effects on fatty acid composition, the nature of the biochemical lesion in three of the mutants could be tentatively attributed to deficiencies in activities of specific enzymes. The other mutant classes had relatively less pronounced changes in fatty acid composition. These mutants may represent alterations in genes that regulate lipid metabolism or seed development. The availability of the mutants should provide new opportunities to investigate the mechanisms that control seed lipid fatty acid composition.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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