Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening by Gwendolyn Gramer, Georg F. Hoffmann, Julia B. Hennermann

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Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease. by Irene M Lelieveld, Anna Böttcher, Julia B Hennermann, Michael Beck, Andreas Fellgiebel

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Saccadic reaction time and ocular findings in phenylketonuria by Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz

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Retinal and optic nerve degeneration in α-mannosidosis by Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann, Susanne Pitz

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The cardiovascular phenotype of adult patients with phenylketonuria by Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger, Uwe Querfeld

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A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades by Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz

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Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature by Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni, Dag Malm

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Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). by Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff

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Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III) by Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker, Sandra R. Breyer

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Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation by Stefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, Julia B. Hennermann, Charlotte Aries, Britta Maecker‐Kolhoff, Martin Sauer, Anibh M. Das, Rita Beier

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The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis by Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol

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Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human G_M1-Gangliosidosis by Deborah Eikelberg, Annika Lehmbecker, Graham Brogden, Witchaya Tongtako, Kerstin Hahn, Andre Habierski, Julia B. Hennermann, Hassan Y. Naim, Felix Felmy, Wolfgang Baumgärtner, Ingo Gerhauser

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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis by Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund

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mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model by Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring

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Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice by Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND tr... by Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar

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Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders by Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker

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