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المؤلفون: Sandra Breyer, Eik Vettorazzi, Katharina von Cossel, Alexander S Spiro, Leonie Schmitz, Ralf Stuecker, Amit Gulati, Martin Rupprecht, Nicole Muschol
المصدر: Journal of Orthopaedic Surgery and Research
Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Male, lcsh:Diseases of the musculoskeletal system, MPS, Radiography, Sanfilippo syndrome, Hip dysplasia (canine), 0302 clinical medicine, lcsh:Orthopedic surgery, Femur Head Necrosis, Hip Dislocation, Orthopedics and Sports Medicine, Child, 030222 orthopedics, Osteonecrosis, Hip dysplasia, medicine.anatomical_structure, Severe phenotype, Child, Preschool, Skeletal dysplasia, Female, Dysostosis multiplex, Research Article, Adult, medicine.medical_specialty, Adolescent, Pain, Mucopolysaccharidosis type III, Young Adult, 03 medical and health sciences, Femoral head, Skeletal disease, Chart review, Internal medicine, medicine, Humans, Retrospective Studies, Hip, business.industry, Mucopolysaccharidoses, medicine.disease, lcsh:RD701-811, Orthopedic surgery, Surgery, lcsh:RC925-935, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8dbb8986541e06cdf4729ccd1c2b44Test
https://doi.org/10.1186/s13018-021-02340-6Test -
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المؤلفون: Rossella Parini, Moyo C. Kruyt, Neil Oxborrow, Amy Robinson, Eveline J. Langereis, Deborah M. Eastwood, Simon Jones, Gé-Ann Kuiper, Johanna H. van der Lee, William G. Mackenzie, Sandra Breyer, Frits A. Wijburg, Klane K. White, Peter M. van Hasselt, René M. Castelein, Elke Schubert Hjalmarsson, Christophe Garin, Vladimir Kenis, Marco Carbone, Nathalie Guffon, Paul J. Orchard, Pauline Hensman
المساهمون: General Paediatrics, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Quality of Care, APH - Methodology, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development
المصدر: Orphanet journal of rare diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, (3–10): Mucopolysaccharidosis type I, Thoracolumbar kyphosis, Mucopolysaccharidosis I, Mucopolysaccharidosis type I [(3-10)], Kyphosis, lcsh:Medicine, 030105 genetics & heredity, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Quality of life, Modified Delphi method, International consensus meeting, Humans, Medicine, Enzyme Replacement Therapy, Genetics(clinical), Pharmacology (medical), (3-10): Mucopolysaccharidosis type I, Genetics (clinical), Clinical practice guideline, Literature review, business.industry, Research, lcsh:R, Hematopoietic Stem Cell Transplantation, General Medicine, Guideline, Enzyme replacement therapy, Residual disease, medicine.disease, Brace, Transplantation, Orthopedic surgery, Physical therapy, Surgery, Dysostosis multiplex, business, Kyphotic angle, 030217 neurology & neurosurgery
وصف الملف: image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430aba4cabd0cdd7a8fe01538e9ff4dbTest
https://pure.amc.nl/en/publications/treatment-of-thoracolumbar-kyphosis-in-patients-with-mucopolysaccharidosis-type-i-results-of-an-international-consensus-procedureTest(60904828-f42b-49eb-9bee-e83ca4d1eb70).html -
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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: Sachin Khanduri, Samarjit Bhadury, sugandha rawat, Umesh C Parashari
المصدر: SA Journal of Radiology; Vol 16, No 1 (2012)
South African Journal of Radiology, Vol 16, Iss 1, Pp 32-34 (2012)مصطلحات موضوعية: lcsh:Medical physics. Medical radiology. Nuclear medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Morquio syndrome, Radiological and Ultrasound Technology, business.industry, Mucopolysaccharidosis, Morquio syndrome, central beaking, dysostosis multiplex, lysosomal storage diseases, lcsh:R895-920, Mucopolysaccharidosis, Dysostosis multiplex, nutritional and metabolic diseases, medicine.disease, Surgery, medicine, Radiology, Nuclear Medicine and imaging, skin and connective tissue diseases, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af8275cb8c6a83a66cf651da25131ceTest
https://doi.org/10.4102/sajr.v16i1.233Test -
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المؤلفون: Sinef Yarar, U. Löbel, Sandra Breyer, Ralf Stücker, Nicole Muschol, Kurt Ullrich, Ingo Müller, Mona Schmidt
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: 0301 basic medicine, Male, Thoracolumbar kyphosis, Mucopolysaccharidosis I, Hip dysplasia (canine), 0302 clinical medicine, Craniocervical stenosis, Hip Dislocation, Genetics(clinical), Pharmacology (medical), Musculoskeletal Diseases, Hurler syndrome, Child, Genetics (clinical), Medicine(all), Odontoid Hypoplasia, Mucopolysaccharidosis type I, Hematopoietic Stem Cell Transplantation, General Medicine, Musculoskeletal manifestations, Hip dysplasia, Magnetic Resonance Imaging, Treatment Outcome, Child, Preschool, Disease Progression, Female, Range of motion, Dysostosis multiplex, Adult, medicine.medical_specialty, Adolescent, Scoliosis, 03 medical and health sciences, Young Adult, medicine, Humans, Retrospective Studies, Bone Diseases, Developmental, business.industry, Research, medicine.disease, Surgery, 030104 developmental biology, Orthopedic surgery, Odontoid hypoplasia, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e69bb04e757d82719e1b42c868006aTest
http://europepmc.org/articles/PMC4938899Test -
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المؤلفون: J.J. Hopwood, R. Nicol, Kazimierz Kozlowski
المصدر: European Radiology. 5
مصطلحات موضوعية: Mental development, medicine.medical_specialty, business.industry, Skeletal survey, General Medicine, medicine.disease, Dermatology, Surgery, Mucopolysaccharidosis type I, Clinical diagnosis, Mucopolysaccharidosis I, medicine, Mild dysostosis multiplex, Radiology, Nuclear Medicine and imaging, Radiology, Scheie syndrome, business, Neuroradiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5802124e0f5536074e5cc4f6565e1aa5Test
https://doi.org/10.1007/bf00208355Test -
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المؤلفون: M. Rybak, K. Kozlowski
المصدر: The British Journal of Radiology. 44:464-467
مصطلحات موضوعية: Thorax, medicine.medical_specialty, media_common.quotation_subject, Birth weight, Short stature, Pelvis, Hyperemesis gravidarum, medicine, Deformity, Humans, Radiology, Nuclear Medicine and imaging, Girl, Child, Glycosaminoglycans, media_common, Normal delivery, business.industry, Skull, Dysostosis multiplex, General Medicine, Mucopolysaccharidoses, medicine.disease, Surgery, Radiography, Scoliosis, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57efee9da96165b0726c7911f75c9e2Test
https://doi.org/10.1259/0007-1285-44-522-464Test -
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المصدر: The American journal of roentgenology, radium therapy, and nuclear medicine. 124(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Ribs, Ulna, Disaccharidases, Fucosidosis, Bone and Bones, Facial Bones, symbols.namesake, Age Determination by Skeleton, medicine, Humans, Radiology, Nuclear Medicine and imaging, Femur, Child, Pelvic Bones, Lung, Pelvis, Fucose, alpha-L-Fucosidase, Bone Diseases, Developmental, Hip, business.industry, Skull, Roentgen, Heart, General Medicine, Humerus, Mucopolysaccharidoses, medicine.disease, Clavicle, Spine, Surgery, Scapula, Radius, medicine.anatomical_structure, Child, Preschool, symbols, Mild dysostosis multiplex, Radiology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71cb7ea2e6e1a0e283b3a892b26e337dTest
https://pubmed.ncbi.nlm.nih.gov/167599Test -
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المؤلفون: D. Engel
المصدر: Archives of Pediatrics & Adolescent Medicine. 60:562
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Dysostosis multiplex, Scaphocephaly, Disease, Oxycephaly, medicine.disease, Dermatology, Surgery, Skull, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine, Etiology, Deformity, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea5bc8e9576e07d38106943f49887ed8Test
https://doi.org/10.1001/archpedi.1940.02000030094009Test