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Items: 1 to 20 of 228

1.
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
Barbara Triggs-Raine, Timothy J. Salo, Hong Zhang, Brandy A. Wicklow, Marvin R. Natowicz
Proc Natl Acad Sci U S A. 1999 May 25; 96(11): 6296–6300. doi: 10.1073/pnas.96.11.6296
PMCID:
PMC26875
AbstractArticlePDF–213K
2.
Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies
Karolina Pierzynowska, Lidia Gaffke, Magdalena Podlacha, Grzegorz Węgrzyn
Int J Mol Sci. 2020 Feb; 21(3): 1156. Published online 2020 Feb 10. doi: 10.3390/ijms21031156
PMCID:
PMC7036933
AbstractArticlePDF–4.3M
3.
Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders
Maria del Moral, Maximilian Loeck, Eameema Muntimadugu, Guillem Vives, Vy Pham, Peter Pfeifer, Giuseppe Battaglia, Silvia Muro
J Funct Biomater. 2023 Sep; 14(9): 440. Published online 2023 Aug 25. doi: 10.3390/jfb14090440
PMCID:
PMC10531859
AbstractArticlePDF–2.4M
4.
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Annete P. Gjesing, Mulazim Hussain, Muhammad Tufail, Muhammad Saqib, Kiran Afshan, Torben Hansen
Front Genet. 2023; 14: 1254909. Published online 2023 Sep 11. doi: 10.3389/fgene.2023.1254909
PMCID:
PMC10524275
AbstractArticlePDF–1.6M
5.
Hyaluronidase 1 deficiency decreases bone mineral density in mice
Emeline Puissant, Florentine Gilis, Virginie Tevel, Jean-Michel Vandeweerd, Bruno Flamion, Michel Jadot, Marielle Boonen
Sci Rep. 2022; 12: 10142. Published online 2022 Jun 16. doi: 10.1038/s41598-022-14473-7
PMCID:
PMC9203814
AbstractArticlePDF–8.4M
6.
Comparison between Nanoparticle Encapsulation and Surface Loading for Lysosomal Enzyme Replacement Therapy
Eameema Muntimadugu, Marcelle Silva-Abreu, Guillem Vives, Maximilian Loeck, Vy Pham, Maria del Moral, Melani Solomon, Silvia Muro
Int J Mol Sci. 2022 Apr; 23(7): 4034. Published online 2022 Apr 6. doi: 10.3390/ijms23074034
PMCID:
PMC8999373
AbstractArticlePDF–2.9M
7.
Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblast
Hamid Khaledi, Michael H. Gelb
Anal Chem. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: Anal Chem. 2020 Sep 1; 92(17): 11721–11727. Published online 2020 Aug 13. doi: 10.1021/acs.analchem.0c01750
PMCID:
PMC8026088
AbstractArticlePDF–625K
8.
Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions
Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao
Diagnostics (Basel) 2020 Aug; 10(8): 554. Published online 2020 Aug 4. doi: 10.3390/diagnostics10080554
PMCID:
PMC7460463
AbstractArticlePDF–714K
9.
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Orphanet J Rare Dis. 2019; 14: 140. Published online 2019 Jun 13. doi: 10.1186/s13023-019-1112-7
PMCID:
PMC6567572
AbstractArticlePDF–783K
10.
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, Cigdem Aktuglu Zeybek, Tanyel Zubarioglu, Ahmet Aydin, Ozgur Kasapcopur
JIMD Rep. 2016; 25: 21–24. Published online 2015 Jun 30. doi: 10.1007/8904_2015_467
PMCID:
PMC5059191
AbstractArticlePDF–105K
11.
Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism
Barbara Triggs-Raine, Marvin R Natowicz
World J Biol Chem. 2015 Aug 26; 6(3): 110–120. Published online 2015 Aug 26. doi: 10.4331/wjbc.v6.i3.110
PMCID:
PMC4549756
AbstractArticlePDF–1.2M
12.
Post‐GWAS multiomic functional investigation of the TNIP1 locus in Alzheimer's disease highlights a potential role for GPX3
Daniel J. Panyard, Lianne M. Reus, Muhammad Ali, Jihua Liu, Yuetiva K. Deming, Qiongshi Lu, Gwendlyn Kollmorgen, Margherita Carboni, Norbert Wild, Pieter J. Visser, Lars Bertram, Henrik Zetterberg, Kaj Blennow, Johan Gobom, Dan Western, Yun Ju Sung, Cynthia M. Carlsson, Sterling C. Johnson, Sanjay Asthana, Carlos Cruchaga, Betty M. Tijms, Corinne D. Engelman, Michael P. Snyder
Alzheimers Dement. 2024 Jul; 20(7): 5044–5053. Published online 2024 May 29. doi: 10.1002/alz.13848
PMCID:
PMC11247664
AbstractArticlePDF–1.1M
13.
Development and Validation of an 18-Gene Urine Test for High-Grade Prostate Cancer
Jeffrey J. Tosoian, Yuping Zhang, Lanbo Xiao, Cassie Xie, Nathan L. Samora, Yashar S. Niknafs, Zoey Chopra, Javed Siddiqui, Heng Zheng, Grace Herron, Neil Vaishampayan, Hunter S. Robinson, Kumaran Arivoli, Bruce J. Trock, Ashley E. Ross, Todd M. Morgan, Ganesh S. Palapattu, Simpa S. Salami, Lakshmi P. Kunju, Scott A. Tomlins, Lori J. Sokoll, Daniel W. Chan, Sudhir Srivastava, Ziding Feng, Martin G. Sanda, Yingye Zheng, John T. Wei, Arul M. Chinnaiyan
JAMA Oncol. 2024 Jun; 10(6): 726–736. Published online 2024 Apr 18. doi: 10.1001/jamaoncol.2024.0455
PMCID:
PMC11190811
AbstractArticle
14.
International Guidelines for the Diagnosis and Management of Hyperinsulinism
Diva D. De Leon, Jean Baptiste Arnoux, Indraneel Banerjee, Ignacio Bergada, Tricia Bhatti, Louise S. Conwell, Junfen Fu, Sarah E. Flanagan, David Gillis, Thomas Meissner, Klaus Mohnike, Tai L.S. Pasquini, Pratik Shah, Charles A. Stanley, Adrian Vella, Tohru Yorifuji, Paul S. Thornton
Horm Res Paediatr. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Horm Res Paediatr. 2024; 97(3): 279–298. Published online 2023 Jul 14. doi: 10.1159/000531766
PMCID:
PMC11124746
AbstractArticlePDF–590K
15.
Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts
Marco Maccarana, Binjie Li, Honglian Li, Jianping Fang, Mingjia Yu, Jin-ping Li
Glycobiology. 2024 Jun; 34(6): cwae025. Published online 2024 May 17. doi: 10.1093/glycob/cwae025
PMCID:
PMC11101759
AbstractArticlePDF–1.7M
16.
Newborn Screening for 6 Lysosomal Storage Disorders in China
Siyu Chang, Xia Zhan, Yuchao Liu, Huanlei Song, Zizhen Gong, Lianshu Han, Gustavo H. B. Maegawa, Xuefan Gu, Huiwen Zhang
JAMA Netw Open. 2024 May; 7(5): e2410754. Published online 2024 May 13. doi: 10.1001/jamanetworkopen.2024.10754
Correction in:
JAMA Netw Open. 2024 May; 7(5): e2419382.
PMCID:
PMC11091758
AbstractArticle
17.
Impact of the Oral Administration of Polystyrene Microplastics on Hepatic Lipid, Glucose, and Amino Acid Metabolism in C57BL/6Korl and C57BL/6-Lepem1hwl/Korl Mice
Yujeong Roh, Jieun Kim, Heejin Song, Ayun Seol, Taeryeol Kim, Eunseo Park, Kiho Park, Sujeong Lim, Suha Wang, Youngsuk Jung, Hyesung Kim, Yong Lim, Daeyoun Hwang
Int J Mol Sci. 2024 May; 25(9): 4964. Published online 2024 May 2. doi: 10.3390/ijms25094964
PMCID:
PMC11084201
AbstractArticlePDF–10M
18.
Temporal dynamics of the multi-omic response to endurance exercise training
MoTrPAC Study Group, Lead Analysts, MoTrPAC Study Group
Nature. 2024; 629(8010): 174–183. Published online 2024 May 1. doi: 10.1038/s41586-023-06877-w
PMCID:
PMC11062907
AbstractArticlePDF–60M
19.
Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
Samantha Donsante, Alice Pievani, Biagio Palmisano, Melissa Finamore, Grazia Fazio, Alessandro Corsi, Andrea Biondi, Shunji Tomatsu, Rocco Piazza, Marta Serafini, Mara Riminucci
JCI Insight. 2024 Mar 8; 9(5): e173449. Published online 2024 Mar 8. doi: 10.1172/jci.insight.173449
PMCID:
PMC10972592
AbstractArticlePDF–7.3M
20.
Tackling strong biofilm and multi-virulent vancomycin-resistant Staphylococcus aureus via natural alkaloid-based porous nanoparticles: perspective towards near future eradication
Marwa I. Abd El-Hamid, Doaa Ibrahim, Sara T. Elazab, Wafaa M. Gad, Marwa Shalaby, Wafaa M. El-Neshwy, Mohammed Abdulrahman Alshahrani, Ahmed Saif, Reem M. Algendy, Maha AlHarbi, Fayez M. Saleh, Afaf Alharthi, Eman A. A. Mohamed
Front Cell Infect Microbiol. 2023; 13: 1287426. Published online 2024 Jan 12. doi: 10.3389/fcimb.2023.1287426
PMCID:
PMC10811083
AbstractArticlePDF–2.5M

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