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alpha glucosidase/fatigue
Врската е зачувана во таблата со исечоци
9 резултати
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
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Glycogen storage disease type II (GSD II) is an inherited progressive muscle disease in which lack of functional acid alpha-glucosidase (AGLU) results in lysosomal accumulation of glycogen. We report on the impact of a null mutation of the acid alpha-glucosidase gene (AGLU(-/-)) in mice on the force
[Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue].
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Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle
[Diagnosis recommendations for late-onset Pompe disease].
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BACKGROUND
Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.
OBJECTIVE
To develop consensus
[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].
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BACKGROUND
Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue.
METHODS
A case of a 45-year-old male patient is presented, and difficulty in
Mobility assessment using wearable technology in patients with late-onset Pompe disease.
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Late-onset Pompe disease (LOPD) is a rare genetic disorder due to the absence or deficiency of acid alpha-glucosidase enzyme resulting in slowly progressing reduction of muscle strength, causing difficulties with mobility and respiration. Wearable technologies offer novel options to evaluate
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.
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BACKGROUND
Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
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Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen is caused by acid alpha-glucosidase deficiency. Patients with late-onset Pompe's disease present with progressive muscle weakness also affecting pulmonary function. In search of a treatment, we
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
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Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural
Hypothyroidism in late-onset Pompe disease.
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OBJECTIVE
In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include
Најкомплетната база на податоци за лековити билки поддржана од науката
- Работи на 55 јазици
- Лекови од билки поддржани од науката
- Препознавање на билки по слика
- Интерактивна GPS мапа - означете ги билките на локацијата (наскоро)
- Прочитајте научни публикации поврзани со вашето пребарување
- Пребарувајте лековити билки според нивните ефекти
- Организирајте ги вашите интереси и останете во тек со истражувањето на новостите, клиничките испитувања и патентите
Напишете симптом или болест и прочитајте за билки што можат да помогнат, напишете билка и видете болести и симптоми против кои се користи.
* Сите информации се базираат на објавени научни истражувања
