ReviewZeitschrift fur Rheumatologie2010
[Lysosomal storage diseases].
Review in Zeitschrift fur Rheumatologie, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed, 7 citations in OpenAlex.
No citing paper in PubMed yet.
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Authors and funding
1 author at 1 institution in 1 country.
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Abstract
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist plays a key role for the early recognition of these diseases. Since several of these can be treated very effectively by enzyme replacement, a timely diagnosis and start of therapy are essential to avoid irreversible organ damage and poor quality of life. Therefore, each clinical rheumatologist should be aware of the cardinal symptoms of lysosomal storage diseases.
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Registered trials
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