Results 111 to 120 of about 249,219 (350)

Exploring if Longitudinal Changes on PET Imaging Can Serve as a Biomarker for Stiff Person Syndrome Spectrum Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify metabolic patterns in the brain and musculoskeletal system of stiff person syndrome spectrum disorders (SPSD) patients over time using PET imaging and evaluate the impact of immune therapy on metabolic activity as a surrogate for treatment response.
Munther M. Queisi, Samantha N. Roman, Mohammad S. Sadaghiani, Lilja B. Solnes, Scott D. Newsome   +4 more
wiley   +1 more source

EXPERIENCE OF IMPLEMENTING NEW TECHNOLOGY TREATMENT OF CHILDREN WITH MPS IN THE RUSSIAN PEDIATRIC PRACTICE

Педиатрическая фармакология, 2011
The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain.
A.A. Baranov, L.S. Namazova-Baranova, A.K. Gevorkyan, V.M. Krasnov, L.M. Kuzenkova, G.A. Kashkaradze, N.D. Vashakmadze, T.V. Podkletnova   +7 more
doaj   +2 more sources

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

Orphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans.
Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong   +5 more
doaj   +1 more source

Lysosomal diseases and enzyme replacement therapy

GSC Biological and Pharmaceutical Sciences
Lysosomal diseases are genetic disorders caused by enzyme deficiencies that lead to substrate accumulation within lysosomes. Key conditions treated with enzyme replacement therapy (ERT) include Gaucher disease, Pompe disease, Fabry disease, alpha-mannosidosis, and mucopolysaccharidoses types I (MPS I) and II (MPS II).
Valeria Itzel Ochoa Morones, Yesenia Berenice Parga Nevarez, Sophie Sarahi Rivera Valdéz, Diana Carolina García Herrera, Nadia Ximena Valdez Nevarez, Yajaira Montserrat Flores Rosales, Brissia Lazalde Medina   +6 more
openaire   +1 more source

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Hydroxychloroquine Associated with Lower Glomerular Filtration Rate Decline in Lupus Nephritis

Arthritis Care &Research, Accepted Article.
Background Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical. Therefore, we analyzed data from our
Shivani Garg, Brad Rovin, Brad C. Astor, Tripti Singh, Fauzia Hollnagel, Megan Kuik, Lexie Kolton, Callie Saric, S. Sam Lim, Christie M. Bartels   +9 more
wiley   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions

Therapeutics and Clinical Risk Management, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
doaj  

ENZYME REPLACEMENT THERAPY: DIRECTING EXOGENOUS ENZYME TO THE LIVER [PDF]

, 1974
Neil A. Holtzman, Gloria F Bell, Mark J. Krantz, Hans H. Liu, Yuan C. Lee   +4 more
openalex   +1 more source

Exploring patients’ profiles associated with the resolution of acute calcium pyrophosphate arthritis treatedwith colchicine and prednisone: post hoc analysis of a randomized controlled trial

Arthritis Care &Research, Accepted Article.
Objective The objective was to identify factors determining acute arthritis resolution and safety with colchicine and prednisone in acute calcium pyrophosphate (CPP) crystal arthritis. Methods We conducted a post hoc analysis of the COLCHICORT trial, which compared colchicine and prednisone for the treatment of acute CPP crystal arthritis, using a ...
Tristan Pascart, Laurène Norberciak, Pascal Richette, Pierre Robinet, Aurore Pacaud, Gauthier Marchasson, Thibault Rabin, Hélène Luraschi, Pierre Maciejasz, Anne‐France Georgel, Augustin Latourte, Hang‐Korng Ea, Sébastien Ottaviani, Charlotte Jauffret, Vincent Ducoulombier   +14 more
wiley   +1 more source