Halbach, M. and Baldus, S. (2018). Platelet Aggregation Inhibitors in Patients with coronary, cerebral and peripheral Macroangiopathy. What, when and how long? (vol 59, pg 288, 2018). Internist, 59 (8). S. 867 - 868. NEW YORK: SPRINGER. ISSN 1432-1289
Full text not available from this repository.Abstract
This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets. Cystine-depleting therapy with cysteamine significantly improves mortality and quality of life.
Item Type: | Journal Article | ||||||||||||
Creators: |
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URN: | urn:nbn:de:hbz:38-178679 | ||||||||||||
DOI: | 10.1007/s00108-018-0461-y | ||||||||||||
Journal or Publication Title: | Internist | ||||||||||||
Volume: | 59 | ||||||||||||
Number: | 8 | ||||||||||||
Page Range: | S. 867 - 868 | ||||||||||||
Date: | 2018 | ||||||||||||
Publisher: | SPRINGER | ||||||||||||
Place of Publication: | NEW YORK | ||||||||||||
ISSN: | 1432-1289 | ||||||||||||
Language: | German | ||||||||||||
Faculty: | Unspecified | ||||||||||||
Divisions: | Unspecified | ||||||||||||
Subjects: | no entry | ||||||||||||
Uncontrolled Keywords: |
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Refereed: | Yes | ||||||||||||
URI: | http://kups.ub.uni-koeln.de/id/eprint/17867 |
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