Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.

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Title: Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.
Authors: Ledinger D; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria. dominic.ledinger@donau-uni.ac.at., Nussbaumer-Streit B; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria., Piso B; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria., Dobrescu A; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria., Gadinger A; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria., Klerings I; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria., Hohenfellner K; Department of Pediatrics, Pediatric Nephrology, RoMed Kliniken, Rosenheim, Germany., Sommer I; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Aug 28; Vol. 20 (1), pp. 463. Date of Electronic Publication: 2025 Aug 28.
Publication Type: Journal Article; Systematic Review; Review
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.
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  Data: <searchLink fieldCode="AU" term="%22Ledinger+D%22">Ledinger D</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria. dominic.ledinger@donau-uni.ac.at.<br /><searchLink fieldCode="AU" term="%22Nussbaumer-Streit+B%22">Nussbaumer-Streit B</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.<br /><searchLink fieldCode="AU" term="%22Piso+B%22">Piso B</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.<br /><searchLink fieldCode="AU" term="%22Dobrescu+A%22">Dobrescu A</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.<br /><searchLink fieldCode="AU" term="%22Gadinger+A%22">Gadinger A</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.<br /><searchLink fieldCode="AU" term="%22Klerings+I%22">Klerings I</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.<br /><searchLink fieldCode="AU" term="%22Hohenfellner+K%22">Hohenfellner K</searchLink>; Department of Pediatrics, Pediatric Nephrology, RoMed Kliniken, Rosenheim, Germany.<br /><searchLink fieldCode="AU" term="%22Sommer+I%22">Sommer I</searchLink>; Department for Evidence-based Medicine and Evaluation, University for Continuing Education Krems, Krems, Austria.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Aug 28; Vol. 20 (1), pp. 463. <i>Date of Electronic Publication: </i>2025 Aug 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13023-025-03974-z
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              Text: 2025 Aug 28
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