المؤلفون: Lau, Yian Khai¹ (AUTHOR), Iyer, Keerthana¹ (AUTHOR), Shetye, Snehal¹ (AUTHOR), Friday, Chet S.¹ (AUTHOR), Dodge, George R.^1,2 (AUTHOR), Hast, Michael W.¹ (AUTHOR), Casal, Margret L.³ (AUTHOR), Gawri, Rahul¹ (AUTHOR), Smith, Lachlan J.^1,4 (AUTHOR) lachlans@pennmedicine.upenn.edu

المصدر: Journal of Orthopaedic Research. Jul2024, Vol. 42 Issue 7, p1409-1419. 11p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *JOINTS (Anatomy), *CRUCIATE ligaments, *TENDONS, *ACHILLES tendon, *ACHILLES tendon rupture, *JOINT stiffness

المؤلفون: Lund, Troy C.¹ (AUTHOR) lundx072@umn.edu, Braunlin, Elizabeth² (AUTHOR), Polgreen, Lynda E.³ (AUTHOR), Gupta, Ashish O.¹ (AUTHOR), Orchard, Paul J.¹ (AUTHOR), Eisengart, Julie B.⁴ (AUTHOR)

المصدر: Annals of Neurology. Dec2023, Vol. 94 Issue 6, p1182-1186. 5p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *CEREBROSPINAL fluid, *GLYCOSAMINOGLYCANS, *ENZYME replacement therapy, *BLOOD-brain barrier

المؤلفون: Kulkarni, Kapil¹, Singh, Gunjan¹ gunjanafmc@gmail.com, Iqbal, Javed¹, Singh, Ajit K.²

المصدر: Medical Journal of Dr. D.Y. Patil Vidyapeeth. 2023 Supplement 1, Vol. 16, pS140-S143. 4p.

مصطلحات موضوعية: *CHILD patients, *MUCOPOLYSACCHARIDOSIS I, *AIRWAY (Anatomy), *COGNITIVE ability

المؤلفون: Liu, Dan¹ (AUTHOR), Jiang, Zhongjing² (AUTHOR), Deng, Linhua² (AUTHOR), Li, Haibo^1,3 (AUTHOR) lihaibo@csu.edu.cn, Jiang, Haibo^1,3 (AUTHOR) jiang1303@gmail.com

المصدر: Annals of the New York Academy of Sciences. Aug2023, Vol. 1526 Issue 1, p114-125. 12p. 5 Color Photographs, 1 Black and White Photograph, 1 Diagram, 1 Graph.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *ARACHIDONIC acid, *GENE expression, *CONGENITAL disorders, *GENETIC mutation, *BLOOD coagulation factor XIII

المؤلفون: de Oliveira Vilar, Ivanete Cláudia, Reis-Oliveira, Jennifer, Dornas, Gabriela Lopes Ângelo, de Abreu, Mauro Henrique Nogueira Guimarães, Carneiro, Natália Cristina Ruy, Borges-Oliveira, Ana Cristina

المصدر: Healthcare (2227-9032); May2024, Vol. 12 Issue 10, p1046, 9p

مصطلحات موضوعية: CROSS-sectional method, PARENTS, MALOCCLUSION, RESEARCH funding, BONE diseases, RARE diseases, QUESTIONNAIRES, GINGIVITIS, STATISTICAL sampling, PILOT projects, MULTIPLE regression analysis, SYMPTOMS, DESCRIPTIVE statistics, CHI-squared test, MULTIVARIATE analysis, BRAZILIANS, CAREGIVERS, ODDS ratio, GENETIC disorders, STATISTICS, MUCOPOLYSACCHARIDOSIS I, DENTAL caries, PUBLIC health, CONFIDENCE intervals, DATA analysis software, ORAL health, OSTEOGENESIS imperfecta

المؤلفون: Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, Corti, Ambra

المصدر: Science Translational Medicine; 5/1/2024, Vol. 16 Issue 745, p1-10, 10p

مصطلحات موضوعية: HEMATOPOIETIC stem cells, MUCOPOLYSACCHARIDOSIS I, HEMATOPOIETIC stem cell transplantation, GENE therapy, CELLULAR therapy, CONGENITAL hip dislocation, FIBRODYSPLASIA ossificans progressiva

المؤلفون: Lugo, Noel Taboada¹ noeltl@infomed.sld.cu

المصدر: Acta Médica del Centro. jul-sep2023, Vol. 17 Issue 3, p543-546. 4p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *INTELLECTUAL disabilities, *INFORMED consent (Medical law), *MEDICAL genetics, *MEDICAL personnel, *CHILD patients

المؤلفون: Rohit Hirachan, Alistair Horman, Derek Burke, Simon Heales

المصدر: JIMD Reports, Vol 65, Iss 2, Pp 124-131 (2024)

مصطلحات موضوعية: digital microfluidics, dried blood spot, Fabry disease, Gaucher disease, lysosomal storage disorders, mucopolysaccharidosis I, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/716dfafd6e03427f86bf8a4ecd5b9efaTest

المؤلفون: Chaviano Cárdenas, Yailén¹ yailench83@nauta.cu, Céspedes Cárdenas, Jarvis², Rodríguez Calvo, María Dolores¹

المصدر: Acta Médica del Centro. abr-jun2023, Vol. 17 Issue 2, p332-337. 6p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *DROOLING, *MEDICAL personnel, *TEENAGE boys, *MEDICAL practice, *LIFE expectancy

المؤلفون: Siddiqui, Amna¹ (AUTHOR), Dundar, Halil^1,2 (AUTHOR), Sharma, Jyoti^3,4 (AUTHOR), Kaczmarczyk, Aneta^1,5 (AUTHOR), Echols, Josh¹ (AUTHOR), Dai, Yanying¹ (AUTHOR), Sun, Chuanxi Richard¹ (AUTHOR), Du, Ming^1,3 (AUTHOR), Liu, Zhong¹ (AUTHOR), Zhao, Rui¹ (AUTHOR), Wood, Tim^6,7 (AUTHOR), Sanders, Shalisa⁸ (AUTHOR), Rasmussen, Lynn⁸ (AUTHOR), Bostwick, James Robert⁸ (AUTHOR), Augelli-Szafran, Corinne⁸ (AUTHOR), Suto, Mark⁸ (AUTHOR), Rowe, Steven M.³ (AUTHOR), Bedwell, David M.^1,3 (AUTHOR), Keeling, Kim M.^1,3 (AUTHOR) kkeeling@uab.edu

المصدر: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 5, p4521. 20p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS I, *SODIUM channels, *NONSENSE mutation, *MUCOPOLYSACCHARIDOSIS, *GLYCOSAMINOGLYCANS, *DIURETICS, *ANIMAL models in research

الشركة/الكيان: UNITED States. Food & Drug Administration