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Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosis

delete2026-06-01
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PRE
AI
A
A. de Vreugd
M
M.L. van Campen
E
E.A.M. Cornelissen
M
M.T.P. Besouw
L
L.P.W.J. van den Heuvel
M
M.C.H. Janssen *
E
E.N. Levtchenko
DOI：10.1016/j.ymgme.2026.110166delete
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Abstract

Abstract

En 中文
• Gastrointestinal symptoms are common and burdensome in patients with cystinosis and go underreported • Gastrointestinal symptoms significantly impair quality of life and increase the risk of malnutrition. • Weight, BMI and Muscle Mass in Bioelectrical Impedance Analysis are significantly lower in patients with cystinosis than the healthy population • Early recognition and targeted intervention, including dietary support, may mitigate the risk of malnutrition and might enhance overall quality of life in patients with cystinosis.

Journal

Molecular Genetics and Metabolism cover
Molecular Genetics and Metabolism
IF:
3.5
Papers:
1.1W
Citations:
8.3K

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