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1دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Lysosomal storage disease, Non-immune hydrops fetalis, β-glucuronidase deficiency, Mucopolysaccharidosis VII, MPS VII, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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3دورية أكاديمية
المؤلفون: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 294-308 (2022)
مصطلحات موضوعية: hereditary tyrosinemia type 1, fumarylacetoacetate hydrolase, nitisinone supplementation, mRNA-based therapy, mouse model, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni, Dag Malm
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: MAN2B1, Alpha-mannosidosis, Mortality, Cause of death, Natural history, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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6دورية أكاديمية
المؤلفون: Stefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, Julia B. Hennermann, Charlotte Aries, Britta Maecker‐Kolhoff, Martin Sauer, Anibh M. Das, Rita Beier
المصدر: JIMD Reports, Vol 63, Iss 4, Pp 371-378 (2022)
مصطلحات موضوعية: anthropometry, children, growth pattern, haematopoietic stem cell transplantation, mucopolysaccharidosis I, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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7دورية أكاديمية
المؤلفون: Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring
المصدر: Frontiers in Bioengineering and Biotechnology, Vol 10 (2022)
مصطلحات موضوعية: phenylketonuria (PKU), phenylalanine hydroxylase (pah), metabolic diseases, mRNA-based therapy, sapropterin, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
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8دورية 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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9دورية أكاديمية
المؤلفون: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
مصطلحات موضوعية: Saccadometry, Video-oculography, Saccades, Phenylketonuria, Hyperphenylalaninemia, Phenylalanine hydroxylase deficiency, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
مصطلحات موضوعية: Saccadometry, Video-oculography, Saccades, Gaucher’s disease, Gaucher disease type III, Retina, Medicine
وصف الملف: electronic resource