Статті в журналах з теми "Mucopolysaccharidosis Metabolism Disorders"
Оформте джерело за APA, MLA, Chicago, Harvard та іншими стилями
Ознайомтеся з топ-43 статей у журналах для дослідження на тему "Mucopolysaccharidosis Metabolism Disorders".
Біля кожної праці в переліку літератури доступна кнопка «Додати до бібліографії». Скористайтеся нею – і ми автоматично оформимо бібліографічне посилання на обрану працю в потрібному вам стилі цитування: APA, MLA, «Гарвард», «Чикаго», «Ванкувер» тощо.
Також ви можете завантажити повний текст наукової публікації у форматі «.pdf» та прочитати онлайн анотацію до роботи, якщо відповідні параметри наявні в метаданих.
Переглядайте статті в журналах для різних дисциплін та оформлюйте правильно вашу бібліографію.
Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.
Scarpa, Maurizio, Charles Marques Lourenço, and Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.
Kaczor-Kamińska, Marta, Kamil Kamiński, and Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders." Antioxidants 11, no. 4 (March 30, 2022): 678. http://dx.doi.org/10.3390/antiox11040678.
Baxi, Kalgi, Ashish Jagati, and Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report." Nepal Journal of Dermatology, Venereology & Leprology 18, no. 1 (October 8, 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.
Alden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz, and Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.
Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Zahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan, and Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1." Journal of Pediatric Endocrinology and Metabolism 32, no. 11 (November 26, 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.
De Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, and Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes." Cells 11, no. 1 (December 31, 2021): 129. http://dx.doi.org/10.3390/cells11010129.
Marsden, Deborah, and Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders." Clinical Chemistry 56, no. 7 (July 1, 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.
Singh, Ankur, Rajniti Prasad, and Om Prakash Mishra. "Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis." Journal of Pediatric Genetics 09, no. 02 (January 2, 2020): 087–92. http://dx.doi.org/10.1055/s-0039-3402070.
Mashima, Ryuichi, Torayuki Okuyama, and Mari Ohira. "Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry." International Journal of Molecular Sciences 21, no. 8 (April 14, 2020): 2704. http://dx.doi.org/10.3390/ijms21082704.
De Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo, and Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism." International Journal of Molecular Sciences 21, no. 12 (June 12, 2020): 4211. http://dx.doi.org/10.3390/ijms21124211.
Eremushkin, M. A., D. I. Otvetchikova, I. N. Otvetchikov, and V. A. Kolyshenkov. "Analysis of the Existing Treatment Methods of Musculoskeletal Disorders in Adult Patients with Mucopolysaccharidosis (Literature Review)." Bulletin of Restorative Medicine 99, no. 5 (October 29, 2020): 101–6. http://dx.doi.org/10.38025/2078-1962-2020-99-5-101-106.
Gaffke, Lidia, Zuzanna Szczudło, Magdalena Podlacha, Zuzanna Cyske, Estera Rintz, Jagoda Mantej, Karolina Krzelowska, Grzegorz Węgrzyn, and Karolina Pierzynowska. "Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies." Metabolic Brain Disease 37, no. 2 (December 20, 2021): 299–310. http://dx.doi.org/10.1007/s11011-021-00892-4.
Moskot, Marta, Joanna Jakóbkiewicz-Banecka, Anna Kloska, Ewa Piotrowska, Magdalena Narajczyk, and Magdalena Gabig-Cimińska. "The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis." International Journal of Molecular Sciences 20, no. 2 (January 14, 2019): 304. http://dx.doi.org/10.3390/ijms20020304.
Oliveira, Allan Chiaratti de, Amélia Miyashiro Nunes dos Santos, Ana Maria Martins, and Vânia D'Almeida. "Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause." Sao Paulo Medical Journal 119, no. 5 (September 6, 2001): 160–64. http://dx.doi.org/10.1590/s1516-31802001000500002.
Gul, Rutaba, Sabika Firasat, Mulazim Hussain, Muhammad Tufail, Waheed Ahmad, and Kiran Afshan. "Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease." Genetika 53, no. 3 (2021): 1017–29. http://dx.doi.org/10.2298/gensr2103017g.
Stepien, Karolina M., Abigail Methley, Ramona Naicker, Kinza Noman, and Cliff Chen. "Implications for neuropsychology assessments in adult mucopolysaccharidosis: A systematic review to inform service development in a large tertiary lysosomal disorders centre." Molecular Genetics and Metabolism 135, no. 2 (February 2022): S116. http://dx.doi.org/10.1016/j.ymgme.2021.11.308.
Shukla, Praveen, Christopher C. Dvorak, Janel Long-Boyle, and Sandhya Kharbanda. "Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients." International Journal of Molecular Sciences 21, no. 16 (August 6, 2020): 5634. http://dx.doi.org/10.3390/ijms21165634.
Nakamura-Utsunomiya, Akari. "Bone Biomarkers in Mucopolysaccharidoses." International Journal of Molecular Sciences 22, no. 23 (November 23, 2021): 12651. http://dx.doi.org/10.3390/ijms222312651.
Rai, Shalu, Deepankar Misra, Akansha Misra, Ankit Jain, Ashish Verma, Dimple Grover, and Ayesha Haris. "A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI – a case report." Journal of Medicine and Life 15, no. 4 (April 2022): 579–86. http://dx.doi.org/10.25122/jml-2021-0288.
Amendum, Paige, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, et al. "Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders." Diagnostics 11, no. 9 (August 28, 2021): 1563. http://dx.doi.org/10.3390/diagnostics11091563.
Moores, C., J. G. Rogers, I. M. Mckenzie, and T. C. K. Brown. "Anaesthesia for Children with Mucopolysaccharidoses." Anaesthesia and Intensive Care 24, no. 4 (August 1996): 459–63. http://dx.doi.org/10.1177/0310057x9602400408.
Çakar, Nafiye Emel, and Pınar Yilmazbaş. "Cases of inborn errors of metabolism diagnosed in children with autism." Ideggyógyászati szemle 74, no. 1-2 (2021): 67–72. http://dx.doi.org/10.18071/isz.74.0067.
Leistner, Sandra, and Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses." Genetics and Molecular Biology 21, no. 1 (March 1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.
Bhuiyan, AKM Motiur Rahman, Maftahul Jannat, Md Zilan Miah Sarker, Mohammad Tanvir Islam, and Amit Roy Chowdhury. "A 16-year-old Girl with Morquio Syndrome: A Case Report." BIRDEM Medical Journal 8, no. 3 (September 10, 2018): 266–69. http://dx.doi.org/10.3329/birdem.v8i3.38137.
Węsierska, Magdalena, Anna Kloska, Diego L. Medina, Joanna Jakóbkiewicz-Banecka, Magdalena Gabig-Cimińska, Marta Radzińska, Marta Moskot, and Marcelina Malinowska. "Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I." International Journal of Molecular Sciences 23, no. 3 (January 19, 2022): 1058. http://dx.doi.org/10.3390/ijms23031058.
Albano, Lilian M. J., Sofia S. M. M. Sugayama, Débora R. Bertola, Carlos E. F. Andrade, Cláudia Y. Utagawa, Flávia Puppi, Helena B. Nader, et al. "Clinical and laboratorial study of 19 cases of mucopolysaccharidoses." Revista do Hospital das Clínicas 55, no. 6 (December 2000): 213–18. http://dx.doi.org/10.1590/s0041-87812000000600004.
Sheikh, Sadaf Saleem, Dipak Kumar Yadav, and Ayesha Saeed. "Case Report: Hurler syndrome (Mucopolysaccharidosis Type 1) in a young female patient." F1000Research 9 (May 15, 2020): 367. http://dx.doi.org/10.12688/f1000research.23532.1.
Mungai, L. N. Wainaina, C. M. Njeru, L. A. Nyamai, and M. Maina. "Mucopolysaccharidosis Type II: A Kenyan Case Series." International Journal of Endocrinology 2021 (December 22, 2021): 1–4. http://dx.doi.org/10.1155/2021/2328402.
Draïss, Ghizlane, Adil Fouad, Nourddine Rada, Ouafa Hocar, Naima Fdil, and Mohamed Bouskraoui. "Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots." Open Pediatric Medicine Journal 9, no. 1 (January 31, 2019): 1–4. http://dx.doi.org/10.2174/1874309901909010001.
De Ponti, Giada, Samantha Donsante, Marta Frigeni, Alice Pievani, Alessandro Corsi, Maria Ester Bernardo, Mara Riminucci, and Marta Serafini. "MPSI Manifestations and Treatment Outcome: Skeletal Focus." International Journal of Molecular Sciences 23, no. 19 (September 22, 2022): 11168. http://dx.doi.org/10.3390/ijms231911168.
Torres, Danielle de Araujo, Anneliese Lopes Barth, Mariana Pires de Mello Valente, Paulo Pires de Mello, and Dafne Dain Gandelman Horovitz. "Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study." Diagnostics 9, no. 4 (November 13, 2019): 187. http://dx.doi.org/10.3390/diagnostics9040187.
Melit, Lorena Elena, Oana Marginean, Carmen Duicu, Cristina Campean, and Maria Oana Marginean. "A RARE CASE OF HUNTER SYNDROME – CASE REPORT." Romanian Journal of Pediatrics 64, no. 1 (March 31, 2015): 38–41. http://dx.doi.org/10.37897/rjp.2015.1.8.
Zubaida, Bibi, Hajira Batool, Huma Arshad Cheema, Nadia Waheed, and Muhammad Naeem. "Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)." Human Heredity 84, no. 6 (2019): 279–86. http://dx.doi.org/10.1159/000510065.
Xia, Haibin, Brian Anderson, Qinwen Mao, and Beverly L. Davidson. "Recombinant Human Adenovirus: Targeting to the Human Transferrin Receptor Improves Gene Transfer to Brain Microcapillary Endothelium." Journal of Virology 74, no. 23 (December 1, 2000): 11359–66. http://dx.doi.org/10.1128/jvi.74.23.11359-11366.2000.
De Risi, Maria, Michele Tufano, Filomena Grazia Alvino, Maria Grazia Ferraro, Giulia Torromino, Ylenia Gigante, Jlenia Monfregola, et al. "Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders." Nature Communications 12, no. 1 (June 9, 2021). http://dx.doi.org/10.1038/s41467-021-23903-5.
Conijn, Thirsa, Lotte Haverman, Frits A. Wijburg, and Carlijn De Roos. "Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study." Orphanet Journal of Rare Diseases 16, no. 1 (March 10, 2021). http://dx.doi.org/10.1186/s13023-021-01768-7.
Chen, Cliff, Abigail Methley, Ramona Naicker, Stewart Rust, and Karolina M. Stepien. "Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary lysosomal storage disorders centre." Molecular Genetics and Metabolism, December 2022, 106980. http://dx.doi.org/10.1016/j.ymgme.2022.106980.
Kong, Weijing, Shanshan Wu, Jing Zhang, Cheng Lu, Yingxue Ding, and Yan Meng. "Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis." Journal of Pediatric Endocrinology and Metabolism, July 16, 2021. http://dx.doi.org/10.1515/jpem-2020-0742.
Broeders, M., Jgj van Rooij, E. Oussoren, Tjm van Gestel, Ca Smith, Sj Kimber, Rm Verdijk, et al. "Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression." Frontiers in Bioengineering and Biotechnology 10 (December 6, 2022). http://dx.doi.org/10.3389/fbioe.2022.949063.
Tummolo, Albina, Giacomina Brunetti, Laura Piacente, Antonio Marzollo, Alessandra Biffi, Alberto Burlina, and Maria Felicia Faienza. "Bone Remodeling in a Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy." Endocrine, Metabolic & Immune Disorders - Drug Targets 22 (May 20, 2022). http://dx.doi.org/10.2174/1871530322666220520121839.