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  • 1
    Electronic Resource
    Electronic Resource
    Group tests for selective screening of inborn errors of metabolism (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S27 
    Details
    ISSN: 1432-1076
    Keywords: Key words: Chromatographic methods – Amino acids – Organic acids – Purines/pyrimidines – Very long-chain fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme may involve the analysis of amino acids, organic acids, imidazoles, purines and pyrimidines, oligosaccharides and mucopolysaccharides in urine as well as very long-chain fatty acids in plasma. The experienced laboratory, in close co-operation with a specialized paediatrician, will make a positive diagnosis in 6% of the referred samples, provided a careful selection of the patients is made. Our experience of 10 years of screening revealed 100 different defects; 30% of these were so-called amino acid disorders, 50% organic acidurias and the remaining 20% miscellaneous defects. Chromatographic methods are well suited for the discovery of novel defects. In this respect group screening tests will remain of major importance for the study of inborn errors of metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138774
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Group tests for selective screening of inborn errors of metabolism (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S27 
    Details
    ISSN: 1432-1076
    Keywords: Chromatographic methods ; Amino acids ; Organic acids ; Purines/pyrimidines ; Very long-chain fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme may involve the analysis of amino acids, organic acids, imidazoles, purines and pyrimidines, oligosaccharides and mucopolysaccharides in urine as well as very longchain fatty acids in plasma. The experienced laboratory, in close co-operation with a specialized paediatrician, will make a positive diagnosis in 6% of the refered samples, providded a careful selection of the patients is made. Our experience of 10 years of screening revealed 100 different defects; 30% of these were so-called amino acid disorders, 50% organic acidurias and the remaining 20% miscellaneous defects. Chromatographic methods are well suited for the discovery of novel defects. In this respect group screening tests will remain of major importance for the study of inborn errors of metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138774
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 684-686 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the presence of a catalytically-defective but immunologically-reactive enzyme. Our results support the conclusion that the propositus girl may represent the first case of compound heterozygosity for acute intermittent porphyria alleles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799567
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    A retrospective study of a patient with homozygous form of acute intermittent porphyria (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 673-683 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In 1964 a child with an exceptional form of porphyria was described; she excreted persistently excessive amounts of delta-aminolaevulinic acid, porphobilinogen and uroporphyrin in her urine from early childhood. The biochemical profile resembled that of acute intermittent porphyria (AIP). The child died at the age of 8 years. Reinvestigation of some urine samples by HPLC revealed differences in comparison with urines of other patients with AIP. The clinical picture characterized by porencephaly and severe retardation in development was completely different from that of AIP. Her mother suffered from AIP but the father never had attacks. Investigations on blood and urine samples of the father showed that he also was affected. Due to the early onset in the index patient, its persistent character, and the fact that both parents are affected we postulate retrospectively to have diagnosed a case of homozygous or a double heterozygous AIP, hitherto undescribed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799566
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Identification of the stereoisomeric configurations of methylcitric acid produced bysi-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 738-747 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The absolute separation of the four stereoisomeric configurations of methylcitric acid can be achieved on a nonchiral stationary phase SE30 capillary column using the correspondingO-acetylated (tri-(−)-2-butyl ester derivatives. Identification of the separated isomers was done using methylcitric acid produced bysi-citrate synthase and methylcitrate synthase ofCandida lipolitica. si-Citrate synthase produces the (2S,3S)-, (2S,3R)- and a small amount of the (2R,3S)-isomers. Methylcitrate synthase produces the (2R,3S)-isomer, indicating that this enzyme is more stereospecific than the animal citrate synthase enzyme. The (2R,3R)-isomer may act as an inhibitor of aconitase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00712017
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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