Literatur
Auf Vorschlag einiger Betroffener stellen wir hier relevante Literatur zur Erkrankung zur Verfügung:
2024
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.
Artikel ansehen 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)
Artikel ansehen2023
Hohenfellner K, Zerell K, Haffner D. Cystinosis. Klin Monbl Augenheilkd. 2023 Mar;240(3):251-259.
Abstract ansehen 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.
Abstract ansehen Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C. Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score.
Artikel ansehen2022
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.
Artikel ansehen Witt S, Kristensen K, Hohenfellner K, Quitmann J. Health-related quality of life and patient-reported outcome measurements in patients with cystinosis.
Artikel ansehen Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P et al. Relationship between age at initiation of cysteamine treatment and kidney function.
Artikel ansehen Hohenfellner K, Elenberg E et al. Newborn Screening: Review of its Impact for Cystinosis.
Artikel ansehen2021
Rohayem J, Haffner D et al. Testicular function in males with infantile nephropathic cystinosis.
Artikel ansehen Keidel L et al. Establishing an objective biomarker for corneal cystinosis.
Artikel ansehen2020
Hohenfellner K, Deerberg-Wittram J. Coordinated, Cost-effective Care for Rare Disease.
PDF öffnen2011
Bouazza, Naïm et al. Population pharmacokinetics and pharmacodynamics of cysteamine.
Artikel ansehen