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  • 1
    Electronic Resource
    Electronic Resource
    Acral dysostosis dyserythropoiesis syndrome (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 384-388 
    Details
    ISSN: 1432-1076
    Keywords: Key words Dyserythropoietic ; anaemia type I ; Polysyndactyly ; Hypoplastic phalanges
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation. Conclusion The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050310
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Key words Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Acral dysostosis dyserythropoiesis syndrome (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 384-388 
    Details
    ISSN: 1432-1076
    Keywords: Dyserythropoietic anaemia type I ; Polysyndactyly ; Hypoplastic phalanges
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation. Conclusion The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072110
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 55-58 
    Details
    ISSN: 1432-1076
    Keywords: Keywords T8993G mtDNA mutation ; Hypocitrullinaemia ; ATPase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051009
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    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 748-752 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome-c oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005497116398
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    Paper (German National Licenses)
    Fulltext
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