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U-IMD: the first Unified European registry for inherited metabolic diseases

2021 . Opladen, Thomas | Gleich, Florian | Kozich, Viktor | Scarpa, Maurizio | Martinelli, Diego | Schaefer, Franz | Jeltsch, Kathrin | Juliá-Palacios, Natalia | García-Cazorla, Ángels | Dionisi-Vici, Carlo | Kölker, Stefan

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

2021 . Schätzl, Teresa | Kaiser, Lars | Deigner, Hans-Peter

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

2021 . Schmidt, Tobias | Schmidt, Constantin | Amling, Michael | Kramer, Jan | Barvencik, Florian

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

2021 . Mix, Lucas | Schreiber-Katz, Olivia | Wurster, Claudia D. | Uzelac, Zeljko | Platen, Sophia | Gipperich, Christina | Ranxha, Gresa | Wieselmann, Gary | Osmanovic, Alma | Ludolph, Albert C. | Petri, Susanne | Lulé, Dorothée

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

2021 . Atiskova, Yevgeniya | Wildner, Jan | Spitzer, Martin Stephan | Aries, Charlotte | Muschol, Nicole | Dulz, Simon

Correlation of retinal and choroidal microvascular impairment in systemic sclerosis

2021 . Rommel, Felix | Prangel, David | Prasuhn, Michelle | Grisanti, Salvatore | Ranjbar, Mahdy

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

2021 . Muntau, Ania C. | Burlina, Alberto | Eyskens, François | Freisinger, Peter | Leuzzi, Vincenzo | Sivri, Hatice Serap | Gramer, Gwendolyn | Pazdírková, Renata | Cleary, Maureen | Lotz-Havla, Amelia S. | Lane, Paul | Muntau, Ania | Rutsch, Frank

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry

2021 . Tometten, Mareike | Kirschner, Martin | Isfort, Susanne | Berres, Marie-Luise | Brümmendorf, Tim H. | Beier, Fabian

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential

2020 . Meixner, Iris | Hagl, Beate | Kröner, Carolin I. | Spielberger, Benedikt D. | Paschos, Ekaterini | Dückers, Gregor | Niehues, Tim | Hesse, Ronny | Renner, Ellen

Revesz syndrome revisited

2020 . Karremann, Michael | Neumaier-Probst, Eva | Schlichtenbrede, Frank | Beier, Fabian | Brümmendorf, Tim H. | Cremer, Friedrich W. | Bader, Peter | Dürken, Matthias

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