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A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

2021 . van Stein , Christina Esther | Klank, Sabrina | Grüneberg, Marianne | Ottolenghi, Chris | Grebe, Jürgen | Reunert, Janine | Harms, Erik | Marquardt, Thorsten

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

2021 . Lotz-Havla, Amelie S. | Weiß, Katharina J. | Schiergens, Katharina A. | Brunet, Theresa | Kohlhase, Jürgen | Regenauer-Vandewiele, Stephanie | Maier, Esther

Impact of glycogen storage disease type I on adult daily life: a survey

2021 . Garbade, Sven F. | Ederer, Viviane | Burgard, Peter | Wendel, Udo | Spiekerkoetter, Ute | Haas, Dorothea | Grünert, Sarah Catharina

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

2021 . , Andrea | Catarino, Claudia B. | Rampeltshammer, Verena | Schindler, David | Gallenmüller, Constanze | Priglinger, Claudia | Pogarell, Oliver | Rüther, Tobias | Klopstock, Thomas

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia

2021 . Hennig, Verena | Schuh, Wolfgang | Neubert, Antje | Mielenz, Dirk | Jäck, Hans-Martin | Schneider, Holm

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

2021 . Depping, Miriam Katharina | Uhlenbusch, Natalie | von Kodolitsch, Yskert | Klose, Hans F. E. | Mautner, Victor-Felix | Löwe, Bernd

The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis

2021 . Leyens, Judith | Bender, Tim Th. A. | Mücke, Martin | Stieber, Christiane | Kravchenko, Dmitrij | Dernbach, Christian | Seidel, Matthias

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

2021 . Freigang, Maren | Steinacker, Petra | Wurster, Claudia Diana | Schreiber-Katz, Olivia | Osmanovic, Alma | Petri, Susanne | Koch, Jan Christoph | Rostásy, Kevin | Falkenburger, Björn | Ludolph, Albert Christian | Otto, Markus | Hermann, Andreas | Günther, René

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic

2021 . Fuerboeter, Mareike | Boettcher, Johannes | Barkmann, Claus | Zapf, Holger | Nazarian, Rojin | Wiegand-Grefe, Silke | Reinshagen, Konrad | Boettcher, Michael

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