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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Archives of microbiology 122 (1979), S. 201-205 
    ISSN: 1432-072X
    Keywords: Amino acid transport ; Yeast genetics ; Multiple drug resistance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract In order to obtain strains of Saccharomycopsis lipolytica impaired in the active transport of l-lysine, mutants resistant to a mixture of l-canavanine, l-4-5-transdehydrolysine and l-S-amino ethylcysteine, taken either all three or two by two, were isolated. These compounds were shown previously to be competitive inhibitors of l-lysine uptake. The resistance patterns and excretion capacity of the mutants were established. All mutants behaved as monogenic. Recombination tests indicated that four genes at least were involved. All mutants were impaired in both high and low affinity l-lysine transport systems. Several hypotheses on the functions of these genes are put forward and discussed.
    Type of Medium: Electronic Resource
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  • 2
    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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  • 3
    ISSN: 1432-198X
    Keywords: Key words Uremia ; Homocysteine ; Cerebrovascular disease ; Thermolabile methylenetetrahydrofolate reductase variant ; Cystinosis ; Folic acid ; Vitamin B12
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We report a 13-year-old girl with nephropathic cystinosis on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 µmol/l). Further testing revealed that she was homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 µmol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile MTHFR allele.
    Type of Medium: Electronic Resource
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