نتایج جستجو برای: pompe disease
تعداد نتایج: 1490290 فیلتر نتایج به سال:
Introduction Pompe disease (glycogenosis II, acid maltase deficiency, OMIM 232300) is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. A hallmark of Pompe disease is the presence of glycogen-loaded lysosomes. Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly...
Pompe disease is a rare autosomal recessive disorder caused by α-glucosidase deficiency. Lower airway involvement and management are rare in patients with late-onset Pompe disease. We describe the case of a 16-y-old girl with late-onset Pompe disease who presented with obvious progressive deterioration in respiratory function. Pulmonary hypertension was also apparent on echocardiography. She ha...
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In a...
The interest of the experts on the aspects of a disorder can change over time for three reasons: 1. discovery of new therapies; 2. improved knowledge; 3. increased levels of scientific research. This concept particularly applies to the field of genetic muscular dystrophies, were we can distinguish disorders generally well known for a long time and disorders that have only recently attracted the...
how to cite this article: mohammadi m. electrodiagnostic studies, “role in the diagnosis and follow-up in children with pompe disease”. iran j child neurol autumn 2012; 6:4 (suppl. 1):23. pls see pdf.
background pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. the infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. bone min...
BACKGROUND Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. METHODS An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagno...
BACKGROUND Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood. CASE REPORT We present a case of infa...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid alpha-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacem...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید