Results 91 to 100 of about 133,872 (296)
Gastroenterologìa, 2015 The article deals with exocrine pancreatic insufficiency (EPI), which is being detected in a significant number (30–50 %) of patients with diabetes mellitus (DM) type I and II and could potentially affect the compensation of DM.
S.M. Tkach
doaj +1 more source
, 2007 Monitoring and adjusting dose requirements of pancreatic enzyme replacement therapy (PERT) are an integral part of the dietetic assessment of patients with CF.
Pearson, Clare Emma
core
Invisible burden of COVID-19: enzyme replacement therapy disruptions
, 2021 Objectives: Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or ...
Erdal, İzzet +7 more
core +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 +3 more
wiley +1 more source
Enzyme Replacement Therapy in Patients with Fabry's Disease [PDF]
Journal of International Medical Research, 2007 Fabry's disease, a disorder affecting the gene for the lysosomal enzyme α-galactosidase A (α-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant α-GAL A for use as an enzyme replacement therapy was
openaire +2 more sources
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 +5 more
doaj +1 more source
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang +6 more
wiley +1 more source
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 +7 more
doaj +2 more sources
, 2003 Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
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 +11 more
wiley +1 more source