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  • 1
    Electronic Resource
    Electronic Resource
    Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome (1995)
    Springer
    Neuroradiology 37 (1995), S. 491-495 
    Details
    ISSN: 1432-1920
    Keywords: Carbohydrate-deficient glycoprotein syndrome ; Olivopontocerebellar atrophy ; Transferrin ; Stroke-like episodes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00600103
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome (1995)
    Springer
    Neuroradiology 37 (1995), S. 491-495 
    Details
    ISSN: 1432-1920
    Keywords: Key words Carbohydrate-deficient glycoprotein syndrome ; Olivopontocerebellar atrophy ; Transferrin ; Stroke-like episodes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00600103
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosis (1998)
    Springer
    Annals of hematology 77 (1998), S. 183-186 
    Details
    ISSN: 1432-0584
    Keywords: Key words c-kit gene ; Mutation ; Tyrosine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We report on a patient with systemic mastocytosis with an activating point mutation of the c-kit gene. This mutation was identical to the c-kit mutation recently described by other groups. Additionally, we found that in this patient the mutation was also present in myeloid and erythroid lineages, indicating a multilineage involvement and suggesting a clonal origin of the disease similar to that described in other myeloproliferative disorders. The erythroid involvement was further demonstrated by the presence of erythropoietin-"independent" erythroid progenitor cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050439
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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