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

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

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

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

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

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

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

المؤلفون: Pierre Journeau, Juliane Leger, Nathalie Guffon, Bertrand Chevallier, Anaïs Brassier

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

المؤلفون: Paolo Simoni, Vinh Dat-Minh Le

المصدر: Skeletal radiology. 48(3)

مصطلحات موضوعية: Hip dysplasia, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Mucopolysaccharidosis type VI, Dysostosis multiplex, Magnetic resonance imaging, medicine.disease, Joint stiffness, Orthopedic surgery, medicine, Bilateral visual impairment, Radiology, Nuclear Medicine and imaging, Radiology, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f81511479a724cc64b55c10bdc084dTest
https://pubmed.ncbi.nlm.nih.gov/30255193Test

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); 243–246

مصطلحات 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