Hartnup syndrome, progressive encephalopathy and allo-albuminaemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1992-12

AUTHORS

K. Schmidtke, W. Endres, A. Roscher, H. Ibel, N. Herschkowitz, C. Bachmann, E. Plöchl, H. B. Hadorn

ABSTRACT

Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described. More... »

PAGES

899-903

References to SciGraph publications

  • 1966-06. Das Hartnupsyndrom in EUROPEAN JOURNAL OF PEDIATRICS
  • 1958. Mangelzustände in NERVENSYSTEM
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf01954126

    DOI

    http://dx.doi.org/10.1007/bf01954126

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1006626118

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/1473543


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