檢索結果 - Hennermann, Julia

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

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Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease 由 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 由 Hopf, Susanne, Hennermann, Julia B., Schuster, Alexander K., Pfeiffer, Norbert, Pitz, Susanne

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Retinal thinning in phenylketonuria and Gaucher disease type 3 由 Hopf, Susanne, Schuster, Alexander K., Hennermann, Julia B., Pfeiffer, Norbert, Pitz, Susanne

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

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

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

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

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

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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis 由 Hölzer, Hans Thomas, Boschann, Felix, Hennermann, Julia B., Hahn, Gabriele, Hermann, Andreas, von der Hagen, Maja, Tüngler, Victoria

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

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Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age 由 Parini, Rossella, Pintos-Morell, Guillem, Hennermann, Julia B, Hsu, Ting-Rong, Karabul, Nesrin, Kalampoki, Vasiliki, Gurevich, Andrey, Ramaswami, Uma

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

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

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Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey 由 Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina

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The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis 由 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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Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human G(M1)-Gangliosidosis 由 Eikelberg, Deborah, Lehmbecker, Annika, Brogden, Graham, Tongtako, Witchaya, Hahn, Kerstin, Habierski, Andre, Hennermann, Julia B., Naim, Hassan Y., Felmy, Felix, Baumgärtner, Wolfgang, Gerhauser, Ingo

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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 由 Phillips, Dawn, Hennermann, Julia B., Tylki-Szymanska, Anna, Borgwardt, Line, Gil-Campos, Mercedes, Guffon, Nathalie, Amraoui, Yasmina, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Lund, Allan M.

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Identification and Affinity Determination of Protein-Antibody and Protein-Aptamer Epitopes by Biosensor-Mass Spectrometry Combination † 由 Lupu, Loredana-Mirela, Wiegand, Pascal, Holdschick, Daria, Mihoc, Delia, Maeser, Stefan, Rawer, Stephan, Völklein, Friedemann, Malek, Ebrahim, Barka, Frederik, Knauer, Sascha, Uth, Christina, Hennermann, Julia, Kleinekofort, Wolfgang, Hahn, Andreas, Barka, Günes, Przybylski, Michael

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease 由 Lenders, Malte, Hennermann, Julia B., Kurschat, Christine, Rolfs, Arndt, Canaan-Kühl, Sima, Sommer, Claudia, Üçeyler, Nurcan, Kampmann, Christoph, Karabul, Nesrin, Giese, Anne-Katrin, Duning, Thomas, Stypmann, Jörg, Krämer, Johannes, Weidemann, Frank, Brand, Stefan-Martin, Wanner, Christoph, Brand, Eva

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