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  • 1
    Electronic Resource
    Electronic Resource
    Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 267-270 
    Details
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Strychnine ; Glycine cleavage system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11–15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439398
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Non-ketotic hyperglycinaemia: clinical and biochemical aspects (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 221-227 
    Details
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Glycine cleavage enzyme
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstracts Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00716464
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Significance of serum lipoprotein-X and gammaglutamyltranspeptidase in the diagnosis of biliary atresia. A preliminary study in 27 cholestatic young infants (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 54-57 
    Details
    ISSN: 1432-1076
    Keywords: Lipoprotein-X ; γ-Glutamyltranspeptidase ; Biliary atresia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and γ-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young infants. Except for LP-X and GGTP levels (P〈0.01, P〈0.001), there were no significant differences between the BA (n=11) and IC (n=13) groups. When values of mean plus 4 standard deviations were used to differentiate BA from IC (89 mg/100 ml for LP-X and 194 IU/l for GGTP), all BA patients gave positive results for either the crtical LP-X of GGTP values. On the other hand, all IC patients gave negative results for both levels, although patients with a paucity of intrahepatic biliary ducts (n=3) were also positive for either the critical LP-X or GGTP values. The combination test with serum LP-X and GGTP is recommended for helping to differntiate BA from IC in cholestatic young infants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441853
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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