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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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)
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4دورية أكاديمية
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)
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5دورية أكاديمية
المؤلفون: Halfmann, Moritz C.Aff1, Aff2, Altmann, SebastianAff1, 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, TilmanAff1, Aff2, Aff4, IDs00330022091837_cor12
المصدر: European Radiology. 33(3):2039-2051
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6دورية أكاديمية
المؤلفون: Giugliani, RobertoAff1, 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)
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7دورية أكاديمية
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)
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8دورية أكاديمية
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
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9دورية أكاديمية
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10دورية أكاديمية
المؤلفون: Kaindl, Angela M.Aff1, Aff2, Aff3, IDs0011202201574w_cor1, Hennermann, Julia B., Niller, Hans H., Hehr, Ute, von Bernuth, HorstAff7, Aff8, Chaoui, Rabih, Landwehr-Kenzel, SybilleAff7, 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