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1دورية 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
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المؤلفون: Umut Selda Bayrakci, Büşra Çavdarlı, Saba Kiremitci, Nurcan Cengiz, Özlem Ünal Uzun, Aynur Küçükçongar Yavaş
المساهمون: MÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Cengiz, Nurcan
المصدر: Pediatric Nephrology. 36:2053-2054
مصطلحات موضوعية: Nephrology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Anemia, Cherry-red spot, Internal medicine, medicine, Child, Kidney, Proteinuria, business.industry, Inborn error of metabolism, Kidney disease, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine.symptom, Dysostosis multiplex, business, Nephrosialidosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac34adefe796f36ed6753dce70669d8cTest
https://doi.org/10.1007/s00467-020-04891-yTest -
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المصدر: European Journal of Pediatrics
مصطلحات موضوعية: Delayed puberty, Pediatrics, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis, Clinical Algorithm, Growth impairment, Short stature, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Lysosomal enzyme deficiency, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Joint Contracture, Growth Charts, Range of Motion, Articular, Child, Growth Disorders, Joint contractures, Glycosaminoglycans, Ossification, business.industry, Dysostosis multiplex, Enzyme replacement therapy, Mucopolysaccharidoses, medicine.disease, Early diagnosis, Algorithm, Child, Preschool, Pediatrics, Perinatology and Child Health, Attenuated mucopolysaccharidosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93380816cfa8d1685cc20482ce22b16Test
https://pubmed.ncbi.nlm.nih.gov/30740618Test -
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المؤلفون: Zabedah Md. Yuns, Syed Musa Raza, Bushra Afroze, Rimshah Shaukat, Affandi Omar
المصدر: Egyptian Journal of Medical Human Genetics, Vol 17, Iss 3, Pp 243-246 (2016)
Egyptian Journal of Medical Human Genetics; Vol 17, No 3 (2016); 243–246مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, lcsh:QH426-470, Early death, Fucosidosis, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics(clinical), Mri brain, Genetics (clinical), lcsh:R5-920, Alpha-fucosidosis, business.industry, Dysostosis multiplex, medicine.disease, lcsh:Genetics, 030104 developmental biology, FUCA1 gene, Pakistani patients, business, lcsh:Medicine (General), Limited resources, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0560bfe0b48539b49407aa4da8141bTest
http://www.sciencedirect.com/science/article/pii/S1110863015001238Test -
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المؤلفون: Havva Yazıcı, Ebru Canda, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
المساهمون: Ege Üniversitesi
المصدر: Journal of Pediatric Research, Vol 5, Iss 1, Pp 28-33 (2018)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Mucopolysaccharidosis, lcsh:R, lcsh:RJ1-570, lcsh:Medicine, lcsh:Pediatrics, Disease, Single Center, medicine.disease, MPS IVA, Pediatri, Morquio A, medicine, cardiac valve, corneal clouding, dysostosis multiplex, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b62e242afe092a42045edd776ac6996Test
https://hdl.handle.net/11454/66379Test -
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المؤلفون: Shuan-Pei Lin, Antony Fu, Albert D. Yang, Motomichi Kosuga, Hsiang-Yu Lin, Shanti Balasubramaniam, Teck-Hock Toh, Meow-Keong Thong, Verasak Thamkunanon, Dong-Kyu Jin, Nancy J. Mendelsohn, Kaustuv Bhattacharya, Hasri Samion, Young Hee Kwun, Torayuki Okuyama, Anita Inwood, Ok Hwa Kim, Akemi Tanaka, Adeline Tan, Michael Fietz, Yew Sing Choy, Jim McGill
المصدر: Molecular Genetics and Metabolism. 115:41-47
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Asia, Delayed Diagnosis, Health Personnel, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Delayed diagnosis, Biochemistry, Short stature, Bone and Bones, Diagnosis, Differential, Endocrinology, Genetics, medicine, Humans, Diagnostic Errors, Medical diagnosis, Referral and Consultation, Molecular Biology, Mucopolysaccharidosis VI, business.industry, Coarse facial features, Dysostosis multiplex, Brain, Decreased pulmonary function, Pacific States, medicine.disease, Surgery, Radiography, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646f5ee618dea52abe5c76154a7c9a3dTest
https://doi.org/10.1016/j.ymgme.2015.03.005Test -
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المؤلفون: Christina Lampe, Nancy J. Mendelsohn, Pranoot Tanpaiboon, Ok Hwa Kim, Scott A. Hoffinger, Hiroki Kano, Barbara K. Burton, Klane K. White, Renée Shediac, Shiro Ikegawa, Ralph S. Lachman, Dong Kyu Jin, Lorne A. Clarke
المصدر: Skeletal Radiology
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, MPS, Spondylo-epiphyseal dysplasia, Mucopolysaccharidosis, MPS VI, Morquio A syndrome, Disease, MPS IVA, Bone and Bones, Multiple epiphyseal dysplasia, Diagnosis, Differential, Young Adult, Morquio A, Humans, Medicine, Scientific Article, Radiology, Nuclear Medicine and imaging, Child, Mucopolysaccharidosis VI, business.industry, Morquio, MED, Mucopolysaccharidosis IV, medicine.disease, SED, Surgery, Radiography, Maroteaux–Lamy syndrome, Radiology Nuclear Medicine and imaging, Child, Preschool, Female, sense organs, Differential diagnosis, Dysostosis multiplex, business, Maroteaux-Lamy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882b5b7527ba5d85c05e66f150f34597Test
https://doi.org/10.1007/s00256-013-1797-yTest -
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المؤلفون: Vassili Valayannopoulos, Paula M. Kelly, Matthias U. Schafroth, Frits A. Wijburg, Christina Lampe, T. Odent, Ellen Crushell, Maurizio Scarpa, Klane K. White, Simon Jones, Johanna H. van der Lee, Ralph J. B. Sakkers, Andrea Borgo, Eveline J. Langereis, Peter A A Struijs, Paul Harmatz, Peter M. van Hasselt
المساهمون: Other departments, General Paediatrics, Other Research, Orthopedic Surgery and Sports Medicine, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases
المصدر: Orphanet journal of rare diseases, vol 8, iss 1
Orphanet journal of rare diseases, 8(1). BioMed Central
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Consensus, Mucopolysaccharidoses (MPS), medicine.medical_treatment, Mucopolysaccharidosis I, Disease, Hematopoietic stem cell transplantation, Regenerative Medicine, Mucopolysaccharidosis type I, Rare Diseases, Clinical Research, medicine, Humans, Hip Dislocation, Genetics(clinical), Pharmacology (medical), Hurler syndrome, Genetics (clinical), Hip dysplasia, Medicine(all), Genetics & Heredity, Transplantation, Surgical treatment, Other Medical and Health Sciences, business.industry, Research, Hematopoietic Stem Cell Transplantation, General Medicine, Evidence-based medicine, medicine.disease, Stem Cell Research, Musculoskeletal, Orthopedic surgery, business, Digestive Diseases, Dysostosis multiplex
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee9598ca75fa9dce4d7a8c78e9ce808fTest
https://escholarship.org/uc/item/7sm648p2Test -
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المؤلفون: Mathew Alexander, Renu George, Maya Thomas, Sunithi Mani, Rohit Ninan Benjamin, Karthik Muthusamy
المصدر: Journal of Pediatric Neurosciences
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, hypomyelination, medicine.medical_treatment, Case Report, Hematopoietic stem cell transplantation, stem cell transplantation, Fucosidosis, fucosidosis, medicine, Global developmental delay, Fucosidase, Sibling, biology, neuroregression, business.industry, General Neuroscience, Fucosidase activity, medicine.disease, Transplantation, Pediatrics, Perinatology and Child Health, biology.protein, Stem cell, Dysostosis multiplex, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f986b84cd01b005532af776466d24825Test
https://doi.org/10.4103/1817-1745.139331Test -
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المؤلفون: Roland B. Scott, Roselyn Payne Epps
المصدر: The Journal of Pediatrics. 52:182-190
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, S syndrome, business.industry, Pediatrics, Perinatology and Child Health, Dysostosis multiplex, medicine, Disease, Differential diagnosis, business, Lipochondrodystrophy, Pathological, Negroid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::79709ac11002f79c6f188bb36a324f8bTest
https://doi.org/10.1016/s0022-3476Test(58)80091-8
