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1دورية أكاديمية
المؤلفون: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Alpha-mannosidosis, Recombinant alpha-mannosidase, Velmanase alfa, Patient registry, Enzyme-replacement therapy, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker, Sandra R. Breyer
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Mucopolysaccharidosis type III, Sanfilippo syndrome, Growth charts, Weight, Body height, Head circumference, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Anja F. Köhn, Lorenz Grigull, Marcel du Moulin, Sarah Kabisch, Luise Ammer, Cornelia Rudolph, Nicole M. Muschol
المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis type III, MPS IIIA, Stem cell transplantation, HSCT, Natural history, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4
المؤلفون: Nicole M. Muschol, Cornelia Rudolph, Thomas Braulke, Nicola Brunetti‐Pierri, Graciana Diez‐Roux, Andrea Ballabio
المصدر: Lysosomal Storage Disorders. :221-231
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e508da5294d8bd34082ff5541fddd1a9
https://doi.org/10.1002/9781119697312.ch20 -
5
المؤلفون: Nicole M. Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia B. Hennermann
المصدر: Molecular Genetics and Metabolism. 138:107232
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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6
المؤلفون: Luise Förster, Stephan Tiede, Cornelia Rudolph, Nicole M. Muschol
المصدر: Molecular Genetics and Metabolism. 138:107104
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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7
المؤلفون: Charlotte Aries, Cornelia Rudolph, Nicole M. Muschol
المصدر: Molecular Genetics and Metabolism. 138:107006
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المؤلفون: Nathalie Guffon, Nicole M. Muschol, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia B. Hennermann
المصدر: Molecular Genetics and Metabolism. 138:107130
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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9
المؤلفون: Cara O'Neill, Roberto Giugliani, Simon Jones, Joseph Muenzer, Nicholas Smith, Chester B. Whitley, Megan Donnell, Elise Drake-Esposito, Kristina Elvidge, Lisa Melton, Nicole M. Muschol
المصدر: Molecular Genetics and Metabolism. 138:107251
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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10
المؤلفون: Luise S. Ammer, Karolin Täuber, Anna Perez, René Santer, Thorsten Dohrmann, Nicole M. Muschol
المصدر: Molecular Genetics and Metabolism. 135:S18
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry