نتایج جستجو برای: infantile pompe disease
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Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe dise...
Recently autophagy has attracted considerable attention because of its role in a wide variety of diseases including neurodegenerative disorders, cancer, myopathies, and lysosomal storage diseases. Autophagy is a “self-eating” process that brings proteins and damaged organelles enclosed in double-membrane autophagosomes to lysosomes for digestion and recycling. Functional lysosomes are essential...
Glycogen is present in all tissues, but it primarily stored the liver and muscle. As a branched chain carbohydrate, broken down by phosphorylase debrancher enzymes, which are cytoplasmic. It also degraded lysosomal α-glucosidase (GAA) known as acid α-glucosidase. The deficiency of GAA patients Pompe disease, phenotypes infantile, juvenile later onset forms. disease treated enzyme replacement th...
A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...
INTRODUCTION Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early m...
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