نتائج البحث - "Dysostosis multiplex"

1

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing

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

2

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

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

3

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

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

4

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

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

5

Spinal involvement in mucopolysaccharidoses: a review

المؤلفون: Luigi Pedone, Donato Rigante, Nicola Magarelli, Cesare Colosimo, Daniele Zaccaria Amato, Antonio Maria Leone, Roberto Casale

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 31(2)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e7d6104edf48d562536a1410dcab56Test
https://pubmed.ncbi.nlm.nih.gov/25358811Test

6

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

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 Diseases

مصطلحات 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