Results 131 to 140 of about 460,260 (336)

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

Efficacy of pancreatic enzyme replacement therapy in chronic pancreatitis: systematic review and meta-analysis

Gut, 2016
Objective The benefits of pancreatic enzyme replacement therapy (PERT) in chronic pancreatitis (CP) are inadequately defined. We have undertaken a systematic review and meta-analysis of randomised controlled trials of PERT to determine the efficacy of ...
D. de la Iglesia-García, Wei Huang, P. Szatmary, I. Bastón-Rey, J. Gonzalez-Lopez, G. Prada-Ramallal, R. Mukherjee, Q. Nunes, J. Domínguez-Muñoz, R. Sutton   +9 more
semanticscholar   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts [PDF]

, 2009
In spite of the progress in the treatment of lysosomal storage diseases (LSDs), in some of these disorders the available therapies show limited efficacy and a need exists to identify novel therapeutic strategies.
Tarallo A, BARONE, MARIA VITTORIA, Cardone M, Porto C, Fontana F, PARENTI, GIANCARLO, Rossi B, Tuzzi MR, ANDRIA, GENEROSO   +8 more
core  

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Clinical characteristic at baseline and follow up after 11–12 months of enzyme replacement therapy. [PDF]

, 2016
Clinical characteristic at baseline and follow up after 11–12 months of enzyme replacement therapy.
Einar Svarstad (658338), Alexey Sokolovkiy (2615452), Michael Mauer (437377), Kelly Smith (1922620), Camilla Tøndel (658339), Behzad Najafian (299389)   +5 more
core   +1 more source

Enzyme replacement therapy for hypophosphatasia—The current paradigm

Clinical Endocrinology
Abstract Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant‐negative mutations in the gene that encodes TNSALP.
Aaron Schindeler, Karissa Ludwig, Craig F. Munns   +2 more
openaire   +4 more sources

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source