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Document type:
Case Reports; Journal Article
Author(s):
Baumeister, FA; Sadowski, B; Schmitz, T; Grübl, A
Title:
[Alström-syndrome: a missed diagnosis with consequences]
Abstract:
BACKGROUND: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss. Further variable symptoms include chronic hepatitis and asthma. CASE REPORT: A patient with asthma associated with retinal degeneration is presented. The investigations demonstrated truncated obesity, sensorineural deafness and impaired glucose tolerance and Alstrom-syndrome was di...     »
Journal title abbreviation:
Klin Padiatr
Year:
2003
Journal volume:
215
Journal issue:
4
Pages contribution:
226-7
Language:
de
Fulltext / DOI:
doi:10.1055/s-2003-41397
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/12929013
Print-ISSN:
0300-8630
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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