Results 71 to 80 of about 1,451,354 (224)

Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

, 2016
63 Введение. Мукополисахаридоз (МПС) — заболевание, относящееся к 27-й группе лизосомных болезней накопления. В соответствии с международной классификацией дисплазий скелета 2015 г.
L. K. Mikhailova, T. Sokolova, O. Polyakova   +2 more
semanticscholar   +1 more source

Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys

Toxicology Reports, 2023
Mucopolysaccharidosis Type IIIB (MPS IIIB) is an ultrarare, fatal pediatric disease with no approved therapy. It is caused by mutations in the gene encoding for lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU).
Jason Pinkstaff, Emma McCullagh, Anita Grover, Andrew C. Melton, Anu Cherukuri, Jill CM Wait, Annalisa Nguyen, Mark T. Butt, Jami L. Trombley, Randall P. Reed, Eric.L. Adams, Robert B. Boyd, Sundeep Chandra, Joshua Henshaw, Charles A. O’Neill, Eric Zanelli, Joseph Kovalchin   +16 more
doaj   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis

Frontiers in Pediatrics, 2022
There is limited information regarding hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis (MPS) IV and VI. This study examined the full donor chimerism, specific lysosomal enzyme levels, and the survival of different MPS children ...
Yuhua Qu, Hao Liu, Likun Wei, Shushan Nie, Wenjiao Ding, Sha Liu, Haiyan Liu, Hua Jiang   +7 more
doaj   +1 more source

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome) [PDF]

Cochrane Database of Systematic Reviews, 2018
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effectiveness, safety and appropriate dose regimen of ERT in people with MPS IV A. To determine whether evidence from NRSIs (which potentially offers longer follow-ups) can contribute to the ERT efficacy evidence-base, and to determine the potential ...
Shemesh, Elad, Deroma, Laura, Hendriksz, Christian J., Hollak, Carla, Krishan, Ashma   +4 more
openaire   +4 more sources

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]

, 2014
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara, Alessandra Zanetti, Andrea Borgo, Angelica Rampazzo, Anna Chiara Frigo, Antonia Pascarella, Daniela Concolino, Elena Procopio, Francesca D’Avanzo, Maurizio Scarpa, Nicoletta Gasparotto, Rosella Tomanin, Rossella Parini   +12 more
core   +1 more source

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

LATE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE IV (MAROTEAUX–LAMY SYNDROME)

Vestnik travmatologii i ortopedii imeni N.N. Priorova, 2017
Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention
Luydmila K. Mikhailova, O. A Polyakova, E. Yu Zakharova, E. Yu Voskoboeva, A. A Kuleshov, M. S Vetrile, I. N Lisyanskiy   +6 more
openaire   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

CRISPR/Cas9‐Mediated Knockouts of the ALG3 and GNTI in N. benthamiana and Their Application to Pharmaceutical Production

Plant Biotechnology Journal, Volume 23, Issue 12, Page 5894-5916, December 2025.
ABSTRACT N‐Glycosylation critically influences the efficacy, safety and pharmacokinetic properties of biopharmaceuticals. Plant expression platforms offer multiple advantages for the production of N‐glycosylated proteins, but their use is impeded by the presence of plant‐specific N‐glycan epitopes, which raise concerns of possible immunogenicity to ...
Dolgormaa Bataa, Hiroyuki Kajiura, Reimi Lai Sang Sawada‐Choi, Yukino Yamashita, Takeshi Ishimizu, Ryo Misaki, Atsushi Takeda, Kazuhito Fujiyama   +7 more
wiley   +1 more source