Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature von Hagen, Maja, Pivarcsi, Mark, Liebe, Juliane, Bernuth, Horst, Didonato, Nataliya, Hennermann, Julia B, Bührer, Christoph, Wieczorek, Dagmar, Kaindl, Angela M

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Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies von Blau, Nenad, Hennermann, Julia B., Langenbeck, Ulrich, Lichter-Konecki, Uta

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

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

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Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C von Hopf, Susanne, Hennermann, Julia B., Schuster, Alexander K., Pfeiffer, Norbert, Pitz, Susanne

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Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers von Truninger, Moritz Ilan, Werner, Helene, Landolt, Markus Andreas, Hahn, Andreas, Hennermann, Julia B, Lagler, Florian B, Möslinger, Dorothea, Pfrimmer, Charlotte, Rohrbach, Marianne, Huemer, Martina

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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study von Schwahn, Bernd C, Dr, Van Spronsen, Francjan J, Prof, Belaidi, Abdel A, PhD, Bowhay, Stephen, BSc, Christodoulou, John, Prof, Derks, Terry G, MD, Hennermann, Julia B, Prof, Jameson, Elisabeth, MBBCh, König, Kai, MD, McGregor, Tracy L, MD, Font-Montgomery, Esperanza, MD, Santamaria-Araujo, José A, PhD, Santra, Saikat, MBBCh, Vaidya, Mamta, MD, Vierzig, Anne, MD, Wassmer, Evangeline, MD, Weis, Ilona, MD, Wong, Flora Y, PhD, Veldman, Alex, MD, Schwarz, Günter, Prof

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

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

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

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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... von Wasserstein, Melissa P, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C, Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L, Yarramaneni, Abhimanyu, Armstrong, Nicole M, Kim, Yong, Kumar, Monica

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

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Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... von Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B, Chabrol, Brigitte, Grant, Christina L, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J Lawrence

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

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

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

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Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study von Trefz, Friedrich K., MD, Burton, Barbara K., MD, Longo, Nicola, MD, PhD, Casanova, Mercedes Martinez-Pardo, MD, Gruskin, Daniel J., MD, Dorenbaum, Alex, MD, Kakkis, Emil D., MD, PhD, Crombez, Eric A., MD, Grange, Dorothy K., MD, Harmatz, Paul, MD, Lipson, Mark H., MD, Milanowski, Andrzej, MD, PhD, Randolph, Linda Marie, MD, Vockley, Jerry, MD, PhD, Whitley, Chester B., MD, PhD, Wolff, Jon A., MD, Bebchuk, Judith, ScD, Christ-Schmidt, Heidi, MSE, Hennermann, Julia B., MD

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

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

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Prediction of long-term outcome in glycine encephalopathy: a clinical survey von Hennermann, Julia B., Berger, Jeanne-Marie, Grieben, Ulrike, Scharer, Gunter, Van Hove, Johan L. K.

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