المؤلفون: Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia, Chabrol, Brigitte, Grant, Christina, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J, Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond

المصدر: Orphanet Journal of Rare Diseases. 19(1)

مصطلحات موضوعية: Lysosomal storage disease, MPS VII, Mucopolysaccharidosis VII, Non-immune hydrops fetalis, β-glucuronidase deficiency, Humans, Mucopolysaccharidosis VII, Glucuronidase, Male, Child, Preschool, Female, Child, Enzyme Replacement Therapy, Recombinant Proteins, Infant, Longitudinal Studies, Adolescent

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8np717v2

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

المصدر: Orphanet Journal of Rare Diseases. 18(1)

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type A/B, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase, Adult, Humans, Sphingomyelin Phosphodiesterase, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Recombinant Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tx7861m

المؤلفون: Wasserstein, Melissa P.^{Aff1, IDs13023023029830_cor1}, 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

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, Muschol, Nicole

المصدر: In Molecular Genetics and Metabolism August 2024 142(4)

المؤلفون: Halfmann, Moritz C.^{Aff1, Aff2}, Altmann, Sebastian^{Aff1, Aff2, Aff3}, Schoepf, U. Joseph, Reichardt, Constantin, Hennermann, Julia B., Kreitner, Karl-Friedrich, Kloeckner, Roman, Hahn, Felix, Dueber, Christoph, Varga-Szemes, Akos, Kampmann, Christoph, Emrich, Tilman^{Aff1, Aff2, Aff4, IDs00330022091837_cor12}

المصدر: European Radiology. 33(3):2039-2051

المؤلفون: Giugliani, Roberto^{Aff1, IDs1302302403176z_cor1}, 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

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Winter, Yaroslav, Hilz, Max, Beuschlein, Felix, Tsukimura, Takahiro, Seifritz, Erich, Lenders, Malte, Brand, Eva, Hennermann, Julia B., Nowak, Albina

المصدر: In Molecular Genetics and Metabolism November 2023 140(3)

المؤلفون: Akkaya, Federica, Babka, Christine, Bannert, Lisa, Bärsch-Michelmann, Anja, Böhm, Leonie, Brinkmann, Folke, Bullinger, Monika, Cario, Holger, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Eymann, Jutta, Frisch, Julia, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Haas, Astrid, Haisch, Lea, Isabell, Heinrich, Held, Melissa, Hennermann, Julia, Herpertz, Stephan, Herrmann-Werner, Anne, Hett, Julian, Heuschmann, Peter, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Junne, Florian, Kassubek, Jan, Koschitzki, Kevin-Thomas, Krassort, Heike, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Ludolph, Albert C., Meyer, Torsten, Meyer dos Santos, Isabell, Mohnike, Klaus, Monninger, Martina, Mücke, Martin, Müller, Susanne, Musacchio, Thomas, Nießen, Margret, Nöhre, Mariel, Ott, Stephan, Petermann-Meyer, Andrea, Pfeifer-Duck, Christina, Piduhn, Lea-Sophie, Rampp, Carina, Rieß, Olaf, Schaubert, Kristina, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Ungethüm, Kathrin, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Wagner, Thomas O.F., Walter, Sabrina, Warrings, Bodo, Zajt, Kamil, Zenker, Karola, Zhang, David, Zipfel, Stephan, Hebestreit, Helge, Lapstich, Anne-Marie, Brandstetter, Lilly, Krauth, Christian, Deckert, Jürgen, Haas, Kirsten, Pfister, Lisa, Witt, Stefanie, Schippers, Christopher, Dieris-Hirche, Jan, Maisch, Tim, Tüscher, Oliver, Bârlescu, Lavinia Aurelia, Berger, Alexandra, Berneburg, Mark, Britz, Vanessa, Deibele, Anna, Graeßner, Holm, Gündel, Harald, Heuft, Gereon, Lücke, Thomas, Mundlos, Christine, Quitmann, Julia Hannah, Rutsch, Frank, Schubert, Katharina, Schulz, Jörg B., Schweiger, Susann, Zeidler, Cornelia, Zeltner, Lena Margarete, de Zwaan, Martina, Bârlescu, Lavinia, Quitmann, Julia, Schulz, Jörg Bernhard, Zeltner, Lena

المصدر: In eClinicalMedicine November 2023 65

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Kaindl, Angela M.^{Aff1, Aff2, Aff3, IDs0011202201574w_cor1}, Hennermann, Julia B., Niller, Hans H., Hehr, Ute, von Bernuth, Horst^{Aff7, Aff8}, Chaoui, Rabih, Landwehr-Kenzel, Sybille^{Aff7, Aff8}, Hahn, Gabriele, Mundlos, Christine, Thomale, Ulrich-Wilhelm, Rosenbaum, Thorsten, Moog, Ute, Horn, Denise, von der Hagen, Maja

المصدر: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 170(10):929-933