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1رسالة جامعية
المؤلفون: Prause, Kevin
مرشدي الرسالة: Arenz, Christoph, Fiedler, Dorothea, Berg, Thorsten
مصطلحات موضوعية: Saure Sphingomyelinase, Glucocerebrosidase, Pharmakologische Chaperone, photoaktivierbare Inhibitoren, myo-Inosit, Aminoinosit-Derivate, Lysosomale Speichererkrankungen, Morbus Niemann-Pick, Morbus Gaucher, Zeitaufgelöste Enzyminhibition, Sphingomyelin, Glucosylceramid, acid sphingomyelinase, glucocerebrosidase, pharmacological chaperones, photocaged inhibitors, myo-Inositol, Aminoinositol derivatives, lysosomal storage diseases, time resolved enzyme inhibition, Glucosylceramide, 547 Organische Chemie, ddc:547
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Stulnig, Thomas Michael
مصطلحات موضوعية: Lysosomale Speicherkrankheiten, Seltene Krankheiten, Enzymersatztherapie, Substratreduktionstherapie, Pharmakologische Chaperone, Lysosomal storage diseases, Orphan diseases, Enzyme replacement therapy, Substrate reduction therapy, Pharmacological chaperones
جغرافية الموضوع: UMW:14572
وصف الملف: text/html
العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-6637/128Test; urn:nbn:at:at-ubmuw:3-6637; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-6637Test; local:99144956191303331; system:AC15385309
الإتاحة: https://doi.org/10.1007/s41969-018-0053-4Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-6637Test -
3
المؤلفون: Raphaël, Tamò, Marianne, Rohrbach, Matthias, Baumgartner, Felix, Beuschlein, Albina, Nowak
المصدر: Therapeutische Umschau. Revue therapeutique. 75(4)
مصطلحات موضوعية: Lysosomal Storage Diseases, Hematopoietic Stem Cell Transplantation, Humans, Enzyme Replacement Therapy, Genetic Therapy, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::10e937fd72e986be2d4342fd6e05c9dfTest
https://pubmed.ncbi.nlm.nih.gov/30468118Test -
4
المصدر: Klinische Padiatrie. 229(3)
مصطلحات موضوعية: Hospitalization, Lysosomal Storage Diseases, National Health Programs, Risk Factors, Germany, Humans, Enzyme Replacement Therapy, Interdisciplinary Communication, Child, Intersectoral Collaboration, Long-Term Care, Home Infusion Therapy, Insurance Coverage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a207b50708d96efcbeaad05adfa54b33Test
https://pubmed.ncbi.nlm.nih.gov/28464188Test -
5
المؤلفون: M, Schulze, S, Groeschel, J, Gburek-Augustat, T, Nägele, M, Horger
المصدر: RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin. 187(12)
مصطلحات موضوعية: Male, Niemann-Pick Diseases, Adolescent, Brain, Infant, Leukodystrophy, Metachromatic, Mucopolysaccharidoses, Magnetic Resonance Imaging, Leukodystrophy, Globoid Cell, Lysosomal Storage Diseases, Young Adult, Neuronal Ceroid-Lipofuscinoses, Child, Preschool, Humans, Female, Gangliosidoses, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5bdbf7b9cea1d97fdb602ce13be0cc7eTest
https://pubmed.ncbi.nlm.nih.gov/26609772Test -
6
المؤلفون: A, Bornemann, Klaus, Harzer
المصدر: Der Pathologe. 36(5)
مصطلحات موضوعية: Diagnosis, Differential, Lysosomal Storage Diseases, Niemann-Pick Diseases, Gangliosidosis, GM1, Gaucher Disease, Cholesterol Ester Storage Disease, Bone Marrow, Histiocytes, Interdisciplinary Communication, Cooperative Behavior, Lipidoses
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::76e4f693e50245064f83709acf775700Test
https://pubmed.ncbi.nlm.nih.gov/26314267Test -
7
المؤلفون: W, Lisch, S, Pitz, G, Geerling
المصدر: Klinische Monatsblatter fur Augenheilkunde. 230(6)
مصطلحات موضوعية: Cornea, Lysosomal Storage Diseases, Male, Ophthalmoscopy, Corneal Opacity, Early Diagnosis, Child, Preschool, Infant, Newborn, Humans, Infant, Female, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b1af5a77c76791e44cb078570b4f81b5Test
https://pubmed.ncbi.nlm.nih.gov/23794426Test -
8
المؤلفون: B, Manger
المصدر: Zeitschrift fur Rheumatologie. 69(6)
مصطلحات موضوعية: Adult, Gaucher Disease, Adolescent, Mucopolysaccharidoses, Glycogen Storage Disease, Sphingolipidoses, Diagnosis, Differential, Lysosomal Storage Diseases, Young Adult, Phenotype, Rare Diseases, Mucolipidoses, Fabry Disease, Humans, Enzyme Replacement Therapy, Interdisciplinary Communication, Cooperative Behavior, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::48d55f1085b8c03e4acb8aa7fdcfdf75Test
https://pubmed.ncbi.nlm.nih.gov/20532791Test -
9
المؤلفون: K, Schöpfer, E, Miebach, M, Beck, S, Pitz
المصدر: Klinische Monatsblatter fur Augenheilkunde. 228(2)
مصطلحات موضوعية: Lysosomal Storage Diseases, Humans, Eye Diseases, Hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0de25e7eb6ca78bc697305ddf02cb12fTest
https://pubmed.ncbi.nlm.nih.gov/20309790Test -
10
المؤلفون: M, JACOBI
المصدر: Virchows Archiv fur pathologische Anatomie und Physiologie und fur klinische Medizin. 314(3-4)
مصطلحات موضوعية: Lysosomal Storage Diseases, Pelizaeus-Merzbacher Disease, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::05ac39975ba69857f1389081873448c2Test
https://pubmed.ncbi.nlm.nih.gov/20270050Test