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  • 1
    Electronic Resource
    Electronic Resource
    The Aase syndrome (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 153-157 
    Details
    ISSN: 1432-1076
    Keywords: Aase syndrome ; Hypoplastic anaemia ; Erythropoietic precursor ; Triphalangeal thumbs ; Cleft lip/palate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 5-month-old boy with congenital hypoplastic anaemia and triphangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441882
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 351-354 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylcrotonyl-CoA carboxylase ; 3-Hydroxyisovaleric acid ; 3-Methylcrotonylglycine ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and culture fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response to biotin. Apart from an attack of vomitting leading to subcoma in the elder sib four weeks after arrival in the Netherlands, the children were in good health. There were no signs of delayed mental development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442517
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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