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المؤلفون: Ans T. van der Ploeg, George J. G. Ruijter, W.W.M. Pim Pijnappel, Margreet A E M Wagenmakers, Mirjam Langeveld, Jan C. van der Meijden, Esmee Oussoren, Bianca Link
المصدر: Bone. 143
مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Histology, Bone disease, MPS, Physiology, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, 030209 endocrinology & metabolism, Avascular necrosis, Osteoarthritis, Bioinformatics, 03 medical and health sciences, Femoral head, 0302 clinical medicine, Skeletal disease, Mucolipidoses, Joint disease, medicine, Humans, Mucolipidosis, business.industry, Cartilage, Acetabulum, Mucopolysaccharidoses, medicine.disease, ML, 030104 developmental biology, medicine.anatomical_structure, Embryonic development, Quality of Life, Hip Joint, business, Dysostosis multiplex, Hip disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f041713ccfe4d07982f3562dfdc6b0eTest
https://doi.org/10.1016/j.bone.2020.115729Test -
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المؤلفون: Aneela Hussain, Bibi Zubaida, Muhammad Naeem, Gulab Sher, Muhammad Aman Khan
المصدر: Genetic Testing and Molecular Biomarkers. 22:541-545
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, Genotype, Transferases (Other Substituted Phosphate Groups), Biology, Polymorphism, Single Nucleotide, GNPTG, DNA sequencing, MUCOLIPIDOSIS III GAMMA, Frameshift mutation, Consanguinity, 03 medical and health sciences, Mucolipidoses, Risk Factors, Lysosomal storage disease, medicine, Humans, Exome, Family, Genetic Predisposition to Disease, Pakistan, Genetic Testing, Genetic Association Studies, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetic testing, Genetics, medicine.diagnostic_test, Dysostosis multiplex, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, musculoskeletal system, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce06a67cd8384f90b979ea0fac6b767Test
https://doi.org/10.1089/gtmb.2018.0123Test -
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المؤلفون: Mahmut Şamil Sağıroğlu, Bayram Yuksel, Safak Gucer, Dilek Yalnizoglu, Rıza Köksal Özgül, Omer F. Gerdan, Ali Dursun, Didem Yücel-Yılmaz, Serap Sivri
المصدر: Clinical Dysmorphology. 26:1-12
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Biopsy, Vesicular Transport Proteins, Gene mutation, urologic and male genital diseases, Bone and Bones, Pathology and Forensic Medicine, 03 medical and health sciences, Fatal Outcome, Lysosomal storage disease, Humans, Medicine, Clinical phenotype, Genetic Association Studies, Genetics (clinical), Proteinuria, business.industry, Siblings, Coarse face, Dysostosis multiplex, Facies, Infant, Syndrome, General Medicine, medicine.disease, Pyramidal signs, Pedigree, Multisystem disease, Lysosomal Storage Diseases, Radiography, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, Tomography, X-Ray Computed, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68ded556bcae7e06faadae1d5946700Test
https://doi.org/10.1097/mcd.0000000000000149Test -
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المؤلفون: Lillian M. Lai, Ralph S. Lachman
المصدر: Pediatric Radiology. 46:1713-1720
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Radiography, Mucolipidosis type II, 030105 genetics & heredity, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Mucolipidoses, Pregnancy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Retrospective Studies, Sacrococcygeal Region, Mucolipidosis, business.industry, Hyperparathyroidism, Dysostosis multiplex, Age Factors, Infant, Newborn, Infant, medicine.disease, Spine, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, sense organs, I-cell disease, business, Rickets
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ddb5532f8f6535315cff72352e4fb2eTest
https://doi.org/10.1007/s00247-016-3673-0Test -
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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: 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: Solaf M. Elsayed
المصدر: Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 151-152 (2018)
مصطلحات موضوعية: 0301 basic medicine, lcsh:R5-920, medicine.medical_specialty, lcsh:QH426-470, business.industry, Dysostosis multiplex, 030105 genetics & heredity, medicine.disease, Dermatology, Fucosidosis, Angiokeratoma, lcsh:Genetics, 03 medical and health sciences, 0302 clinical medicine, medicine, lcsh:Medicine (General), business, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff86e161bfcec250cbbf97da7dd04a23Test
https://doi.org/10.1016/j.ejmhg.2017.08.013Test -
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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