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  • 1985-1989  (3)
Source
Material
Years
Year
  • 1
    Electronic Resource
    Electronic Resource
    Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn (1989)
    Springer
    Journal of inherited metabolic disease 12 (1989), S. 131-138 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We screened 163 000 newborn filter-paper blood samples for serum biotinidase deficiency (McKusick 25326) and found 15 probands: three had complete deficiency (incidence 18.4 cases per million live births, 95% confidence interval 4–54 cases per million); the others had partial deficiency. The positive predictive value of the test for either form of biotinidase deficiency was 9.86%. We found seasonal variation in biotinidase activity in filter-paper blood samples. The cost per test was Can.$0.27 (1987 dollar value) and per case of complete deficiency ascertained, $15 500. Family studies indicated that complete serum biotinidase deficiency is a homozygous phenotype and partial deficiency is the heterozygous form. Homozygous cases were treated with biotin and have shown no clinical manifestations (55 patient-months of observation). None of the heterozygotes (n=42, age 3 months – 62 years) has clinical manifestations. The number of heterozygotes found by screening was much less than predicted probably because the screening test detects mainly the samples with very low (outlier) biotinidase activity. The variant allele(s) for biotinidase deficiency was more common in French Canadians than in other ethnic groups in Quebec; there was no evidence of regional clustering or founder effect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800715
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine (1988)
    Springer
    Journal of inherited metabolic disease 11 (1988), S. 45-55 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We screened urine for chemical individuality in over 1 million newborn infants, by various chromatographic (thin-layer), chemical and spectrophotometric methods, 12 procedures in all. The programme is part of the Quebec Network of Genetic Medicine. Voluntary urine screening began in 1971 and has evolved with changes in choice of tests and times of sample collection. Urine samples were collected on filter paper at either 5, 14 or 21 days after birth; results were best with the 21-day test. Compliance is over 94% with the latter and over 98% with requests for repeat samples. Screening is centralized in one laboratory; follow-up diagnosis, counselling and management are done at four regional centres. Incidence of phenotypes ranged from 1:4300 live births (for expressed cystinuria alleles) to 1 per million (for hyperargininaemia). Over 20 inherited Mendelian disorders were identified. 30 patients required aggressive medical management. We show how this programme can be used for neuroblastoma screening.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800056
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia (1986)
    Springer
    Journal of inherited metabolic disease 9 (1986), S. 253-260 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A sensitive direct colourimetric method has been employed to measure kinetic parameters and pH dependence of carbamyl phosphate synthetase-I, in a liver sample from a 2 1/2-month-old girl, who died from complications of a late-developing congenital hyperammonaemia. The residual activity of carbamyl phosphate synthetase-I was 25%, whereas other urea cycle enzymes were within normal range. ApparentK m for ammonium ion (0.73 mmol/L) was significantly increased (normal range 0.24–0.51).K m for bicarbonate ion was normal, whileK m for NAG showed a slight variation from normal. The pH dependence curve of the patient's enzyme was flat, as compared to two controls showing pH optima at 7.8. Radial immunodiffusion (Mancini) of the abnormal enzyme against human enzyme antiserum gave a cross-reacting material of 10–20%. The methodological approach presented can be used to characterize abnormal enzymes in cases of partial deficiency with only 100–200 mg of liver tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799657
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    Paper (German National Licenses)
    Fulltext
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