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The impact of a child’s inborn error of metabolism: the parents’ perspectives on restrictions, discrimination, family planning, and emergency management

2024 . Harings, Tanjana | Neininger, Martina | Eisenhofer, Simone | Thiele, Alena | Kiess, Wieland | Bertsche, Astrid | Bertsche, Thilo | Beblo, Skadi

Objective measurement of oral function in adults with spinal muscular atrophy

2023 . Kruse, Teresa | Shamai, S. | Leflerovà, D. | Wirth, B. | Heller, R. | Schloss, N. | Lehmann, H. C. | Brakemeier, S. | Hagenacker, T. | Braumann, B. | Wunderlich, G.

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

2021 . Körber, Laura | Schneider, Holm | Fleischer, Nicole | Maier-Wohlfart, Sigrun

The first European consensus on principles of management for achondroplasia

2021 . Cormier-Daire, Valerie | AlSayed, Moeenaldeen | Ben-Omran, Tawfeg | de Sousa, Sérgio Bernardo | Boero, Silvio | Fredwall, Svein O. | Guillen-Navarro, Encarna | Irving, Melita | Lampe, Christian | Maghnie, Mohamad | Mortier, Geert | Peijin, Zagorka | Mohnike, Klaus

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

2021 . Berger, Alexandra | Rustemeier, Anne-Kathrin | Göbel, Jens | Kadioglu, Dennis | Britz, Vanessa | Schubert, Katharina | Mohnike, Klaus | Storf, Holger | Wagner, Thomas O. F.

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

2021 . Dworschak, Gabriel | Reutter, Heiko M. | Ludwig, Michael

Parent–child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish–German cross-sectional study

2021 . Witt, Stefanie | Dellenmark-Blom, Michaela | Kuckuck, Susanne | Dingemann, Jens | Abrahamsson, Kate | Dingemann, Carmen | Chaplin, John Eric | Ure, Benno | Bullinger, Monika | Gatzinsky, Vladimir | Jönsson, Linus | Quitmann, Julia Hannah

Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

2021 . Avanesov, Maxim | Well, Lennart | Laqmani, Azien | Derlin, Thorsten | Riccardi, Vincent M. | Adam, Gerhard | Mautner, Victor-Felix | Salamon, Johannes

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey

2021 . Waltereit, Robert | Beaure d’Augères, Guillaume | Jancic, Jasna | Kingswood, John Chris | Koleva, Maya | Marques, Ruben | Villanueva, Vicente | Auvin, Stéphane

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