Literature

Bechtold-Dalla Pozza S, Lemster S, Herzig N, Vill K, Dubinski I, Hohenfellner K, The Interdisciplinary Cystinosis Clinic; Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis. Journal of Bone and Mineral Research, 2024.

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Hoppe B, Martin-Higueras C, Borghese C, Kaspar S, Reusch B, Beck B, Walli A, Janzen E, Hegert S, Janzen N and Hohenfellner K, Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria, Kidney Int Rep (2024)

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Hohenfellner K, Zerell K, Haffner D. Cystinosis. Klin Monbl Augenheilkd. 2023 Mar;240(3):251-259.

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Keidel LF, Schworm B, Hohenfellner K, Kruse F, Priglinger S, Luft N, Priglinger C. Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review. Klin Monbl Augenheilkd. 2023 Mar.

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Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C. Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score.

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Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA. Beneficial effects of starting oral cysteamine treatment in the first 2 months of life.

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Witt S, Kristensen K, Hohenfellner K, Quitmann J. Health-related quality of life and patient-reported outcome measurements in patients with cystinosis.

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Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P et al. Relationship between age at initiation of cysteamine treatment and kidney function.

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Hohenfellner K, Elenberg E et al. Newborn Screening: Review of its Impact for Cystinosis.

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Rohayem J, Haffner D et al. Testicular function in males with infantile nephropathic cystinosis.

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Keidel L et al. Establishing an objective biomarker for corneal cystinosis.

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Hohenfellner K, Deerberg-Wittram J. Coordinated, Cost-effective Care for Rare Disease.

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Bouazza, Naïm et al. Population pharmacokinetics and pharmacodynamics of cysteamine.

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