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/

الإتاحة: 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/

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

الإتاحة: https://doi.org/10.3390/medicina58010097Test

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

الوصول الحر: https://doaj.org/article/3516abfc646b46ba92eb0ac2089ec009Test

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

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/

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

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

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

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

الإتاحة: https://doi.org/10.3390/ijms21239121Test

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

الوصول الحر: https://doaj.org/article/d5c3fa2698744a2ea52a55a6f5e731fbTest