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1دورية أكاديمية
المؤلفون: Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan
المصدر: Journal of Bone and Mineral Metabolism , 40 (3) pp. 498-507. (2022)
مصطلحات موضوعية: Mucopolysaccharidosis, 25(OH)D-3, Bone mineral density, Skeletal system, Dysostosis multiplex
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10159282/1/29.11.21-JBMM%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10159282Test/
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2دورية أكاديمية
المؤلفون: Federico Baronio, Stefano Zucchini, Francesco Zulian, Mariacarolina Salerno, Rossella Parini, Alessandro Cattoni, Federica Deodato, Alberto Gaeta, Carla Bizzarri, Serena Gasperini, Andrea Pession
المصدر: Medicina; Volume 58; Issue 1; Pages: 97
مصطلحات موضوعية: mucopolysaccharidosis, short stature, joint contractures, dysostosis multiplex, diagnostic algorithm
وصف الملف: application/pdf
العلاقة: Pediatrics; https://dx.doi.org/10.3390/medicina58010097Test
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3دورية أكاديمية
المؤلفون: Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
مصطلحات موضوعية: (3–10): Mucopolysaccharidosis type I, Thoracolumbar kyphosis, Clinical practice guideline, Surgery, Brace, Dysostosis multiplex, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-0997-5Test; https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Langereis, Eveline J, Borgo, Andrea, Crushell, Ellen, Harmatz, Paul R, van Hasselt, Peter M, Jones, Simon A, Kelly, Paula M, Lampe, Christina, van der Lee, Johanna H, Odent, Thierry, Sakkers, Ralph, Scarpa, Maurizio, Schafroth, Matthias U, Struijs, Peter A, Valayannopoulos, Vassili, White, Klane K, Wijburg, Frits A
المصدر: Orphanet Journal of Rare Diseases. 8(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Mucopolysaccharidoses (MPS), Clinical Research, Regenerative Medicine, Rare Diseases, Digestive Diseases, Stem Cell Research, Transplantation, Musculoskeletal, Hematopoietic Stem Cell Transplantation, Hip Dislocation, Humans, Mucopolysaccharidosis I, Mucopolysaccharidosis type I, Hurler syndrome, Hematopoietic stem cell transplantation, Dysostosis multiplex, Hip dysplasia, Surgical treatment, Consensus, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7sm648p2Test
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5دورية أكاديمية
المؤلفون: Breyer, Sandra, Vettorazzi, Eik, Schmitz, Leonie, Gulati, Amit, von Cossel, Katharina Maria, Spiro, Alexander, Rupprecht, Martin, Stuecker, Ralf, Muschol, Nicole Maria
المصدر: http://lobid.org/resources/99370674985406441Test#!, 16(1):201.
مصطلحات موضوعية: Femur Head Necrosis/pathology [MeSH], Dysostosis multiplex, Mucopolysaccharidosis type III, Hip/diagnostic imaging [MeSH], Hip Dislocation/pathology [MeSH], Male [MeSH], Hip/pathology [MeSH], Mucopolysaccharidoses/pathology [MeSH], Pain, Sanfilippo syndrome, Hip Dislocation/etiology [MeSH], Child [MeSH], Research Article, Adolescent [MeSH], Female [MeSH], Osteonecrosis, Radiography [MeSH], Adult [MeSH], MPS, Humans [MeSH], Skeletal disease, Retrospective Studies [MeSH], Hip dysplasia, Mucopolysaccharidoses/diagnostic imaging [MeSH], Femur Head Necrosis/etiology [MeSH], Femoral head, Young Adult [MeSH], Skeletal dysplasia, Mucopolysaccharidoses/complications [MeSH], Child
العلاقة: https://repository.publisso.de/resource/frl:6463463Test; https://doi.org/10.1186/s13018-021-02340-6Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977579Test/
الإتاحة: https://doi.org/10.1186/s13018-021-02340-6Test
https://repository.publisso.de/resource/frl:6463463Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977579Test/ -
6دورية أكاديمية
المؤلفون: Ünal Uzun, Özlem, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Küçükçongar Yavaş, Aynur
المساهمون: MÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, orcid:0000-0002-4977-8310, Cengiz, Nurcan
مصطلحات موضوعية: Child, Inborn error of metabolism, Anemia, Proteinuria, Dysostosis multiplex, Kidney disease, Cherry-red spot
وصف الملف: application/pdf
العلاقة: Pediatric Nephrology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Uzun, Ö.Ü., Cengiz, N., Çavdarlı, B. et al. Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions. Pediatr Nephrol (2021). https://doi.org/10.1007/s00467-020-04891-yTest; https://hdl.handle.net/20.500.12809/8933Test; https://doi.org/10.1007/s00467-020-04891-yTest
الإتاحة: https://doi.org/20.500.12809/8933Test
https://doi.org/10.1007/s00467-020-04891-yTest
https://hdl.handle.net/20.500.12809/8933Test -
7دورية أكاديمية
المؤلفون: Ünal Uzun, Özlem, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Küçükçongar Yavaş, Aynur
المساهمون: MÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, orcid:0000-0002-4977-8310, Cengiz, Nurcan
مصطلحات موضوعية: Child, Dysostosis multiplex, Kidney disease, Cherry-red spot, Nephrosialidosis, Lysosomal storage disorder, NEU1 mutation
وصف الملف: application/pdf
العلاقة: Pediatric Nephrology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Uzun, Ö.Ü., Cengiz, N., Çavdarlı, B. et al. Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers. Pediatr Nephrol (2021). https://doi.org/10.1007/s00467-020-04901-zTest; https://doi.org/10.1007/s00467-020-04901-zTest; https://hdl.handle.net/20.500.12809/8934Test
الإتاحة: https://doi.org/20.500.12809/8934Test
https://doi.org/10.1007/s00467-020-04901-zTest
https://hdl.handle.net/20.500.12809/8934Test -
8دورية أكاديمية
المؤلفون: Sanadhya, Anuradha, Poswal, Lakhan, Gupta, Nitin, Sharma, Shivani, Yadav, Pooja
المساهمون: RAJASTHAN UNIVERSITY OF HEALTH SCIENCES
المصدر: International Journal of Contemporary Pediatrics; Vol 8, No 5 (2021): May 2021; 927-930 ; 2349-3291 ; 2349-3283
مصطلحات موضوعية: Lysosomal, Glycosaminoglycans, Dysostosis multiplex
وصف الملف: application/pdf
العلاقة: https://www.ijpediatrics.com/index.php/ijcp/article/view/4151/2692Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/4151/4073Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/4151/4079Test; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/4151/4080Test; https://www.ijpediatrics.com/index.php/ijcp/article/view/4151Test
الإتاحة: https://doi.org/10.18203/2349-3291.ijcp20211687Test
https://www.ijpediatrics.com/index.php/ijcp/article/view/4151Test -
9دورية أكاديمية
المؤلفون: Nataliya Yuskiv, Katsumi Higaki, Sylvia Stockler-Ipsiroglu
المصدر: International Journal of Molecular Sciences; Volume 21; Issue 23; Pages: 9121
مصطلحات موضوعية: Mucopolysaccharidosis type 4, MPS4B, GM1 gangliosidosis, beta-galactosidase, GLB1, keratan sulfate, dysostosis multiplex, spondylo-epiphyseal dysplasia, dystonia, developmental delay
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21239121Test
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10دورية أكاديمية
المؤلفون: Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
المصدر: Journal of Pediatric Research, Vol 5, Iss 1, Pp 28-33 (2018)
مصطلحات موضوعية: MPS IVA, Morquio A, dysostosis multiplex, cardiac valve, corneal clouding, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://jpedres.org/archives/archive-detail/article-preview/clinical-presentation-and-follow-up-of-patients-wi/18764Test; https://doaj.org/toc/2147-9445Test; https://doaj.org/toc/2587-2478Test