Results 21 to 30 of about 2,839 (212)

Hunter Syndrome: Clinical Case of Early Diagnostics

Педиатрическая фармакология, 2020
Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva   +4 more
doaj   +1 more source

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +1 more source

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 more
doaj   +1 more source

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy

Annals of Neurology, Volume 94, Issue 6, Page 1182-1186, December 2023., 2023
Novel therapies for Hurler syndrome aim to cross the blood–brain barrier (BBB) to target neurodegeneration by degrading glycosaminoglycans (GAG). BBB penetration has been assumed with decreased cerebrospinal fluid (CSF) GAG, yet little is known about CSF GAG without brain‐targeting therapies.
Troy C. Lund, Elizabeth Braunlin, Lynda E. Polgreen, Ashish O. Gupta, Paul J. Orchard, Julie B. Eisengart   +5 more
wiley   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang   +8 more
wiley   +1 more source

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]

, 2010
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz, Louise LC Pinto, Roberto Giugliani, Taiane A Vieira   +3 more
core   +2 more sources

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]

, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Acosta, Angelina, Amartino, Hernán, Cabello, Juan Francisco, Garzón, Luz Norela Correa, Giugliani, Roberto, Guelbert, Norberto, Hawilou, Antonieta Mahfoud, Lemes, Aída, Martins, Ana Maria, Santos, Mara Lucia Schmitz Ferreira, Valdez, C. Araceli Arellano, Villarreal, Martha Luz Solano   +11 more
core   +5 more sources

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

Journal of Clinical Laboratory Analysis, Volume 36, Issue 12, December 2022., 2022
An eight‐year‐old boy with a late infantile form of multiple sulfatase deficiency (MSD) was reported. By copy‐number variation sequencing and whole‐exome sequencing, our results showed a novel compound heterozygous mutation with one allele containing a 240.55kb microdeletion on 3p26.1 encompassing the exons 4‐9 of SUMF1 gene, and the other allele ...
Jingjing Zhang, Dingyuan Ma, Gang Liu, Huasha Zeng, Yuguo Wang, Chunyu Luo, Ping Hu, Zhengfeng Xu   +7 more
wiley   +1 more source