Results 121 to 130 of about 32,710 (240)

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

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders.

Molecular Genetics and Metabolism, 2018
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and ...
B. Bigger, D. Begley, D. Virgintino, A. Pshezhetsky   +3 more
semanticscholar   +1 more source

Mucopolysaccharidosis VI in cats - clarification regarding genetic testing [PDF]

, 2016
Debate. Published online: 02 July 2016.The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes ...
Beccaglia, M., Genova, F., Grahn, R., Hopwood, J., Longeri, M., Lyons, L.   +5 more
core   +3 more sources

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta, Cathy Duong, Virginia Kimonis, Changrui Xiao   +3 more
wiley   +1 more source

Anesthesiological risks in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Background Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway.
Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini, Simonetta Tesoro   +3 more
doaj   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.

Molecular Genetics and Metabolism, 2018
To explore the correlation between glycosaminoglycan (GAG) levels and mucopolysaccharidosis (MPS) type, we have evaluated the GAG levels in blood of MPS II, III, IVA, and IVB and urine of MPS IVA, IVB, and VI by tandem mass spectrometry. Dermatan sulfate
S. Khan, R. Mason, R. Giugliani, K. Orii, T. Fukao, Yasuyuki Suzuki, S. Yamaguchi, Hironori Kobayashi, T. Orii, S. Tomatsu   +9 more
semanticscholar   +1 more source

Bone marrow transplantation in patients with storage diseases: a developing country experience

Arquivos de Neuro-Psiquiatria, 2006
Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C., Teive Hélio A.G., Troiano André R., Bitencourt Marco, Funke Vaneuza A.M., Setúbal Daniela C., Zanis Neto José, Medeiros Carlos R., Werneck Lineu C., Pasquini Ricardo, Bonfim Carmen M.S.   +10 more
doaj  

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Clinical Case Reports, 2018
Key Clinical Message Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans ...
Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Dissanayake   +5 more
doaj   +1 more source

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
H. Gleitz, A. Liao, James R Cook, Samuel Rowlston, Gabriella M. A. Forte, Zelpha D’Souza, C. O’Leary, Rebecca J Holley, B. Bigger   +8 more
semanticscholar   +1 more source