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glycogen storage disease type iii/asthenia
پیوند در کلیپ بورد ذخیره می شود
صفحه 1 از جانب 24 نتایج
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis].
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In nine patients aged 3 to 45 years with glycogen storage disease type III (GSD III) presenting muscle weakness, the clinical manifestations and biochemical subtype-classifications based on organ specificity or enzymatic varieties of debrancher enzyme were analyzed. All the patients developed muscle
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?
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Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can
Glycogen storage disease type III in Inuit children.
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Glycogen storage disease type III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen
Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers.
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A neuromuscular disorder is reported in two brothers, aged 28 and 38 years, with glycogenosis type III. Both patients had proximal weakness, pseudohypertrophy of sternocleidomastoid, trapezius and quadriceps muscles, mild distal wasting and myopathic EMG changes. Pseudohypertrophy was more evident
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.
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Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually worsens to fixed myopathy and cardiac involvement
Debrancher deficiency: neuromuscular disorder in 5 adults.
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Five patients, 4 men and 1 woman, had adult-onset and slowly progressive weakness. There was distal wasting in 2, hepatomegaly in 3, and congestive heart failure in 2. Electromyography showed a mixed pattern with abundant fibrillations. Serum creatine phosphokinase was increased 5- to 45-fold. Blood
Pathological characteristics of glycogen storage disease III in skeletal muscle.
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We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen.
Multidisciplinary management of an obstetric patient with glycogen storage disease type 3.
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A 22-year-old primiparous woman with known glycogen storage disease type 3a presented to our hospital during her 12th week of pregnancy. Glycogen storage disease type 3 is a rare inherited disorder resulting from a deficiency of the glycogen debranching enzyme, causing the accumulation of abnormal
Clinical varieties of neuromuscular disease in debrancher deficiency.
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Two men and one woman with debrancher deficiency had symptoms and signs of neuromuscular disease. The two men had adult-onset and slowly progressive weakness, distal muscle wasting, "mixed" electromyographic patterns, and slow nerve conduction velocities; the initial diagnosis was
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.
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BACKGROUND
Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII).
METHODS
We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average.
RESULTS
NMI was diagnosed at an average age of 2.66 years and was
Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect.
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The glycogen storage diseases (GSD) are a heterogenous group of inherited disorders involving one of the several steps of glycogen synthesis or degradation. Type III GSD, also known as Cori's or Forbe's disease, results from a deficiency of the enzyme, amylo-1,6-glucosidase, which is responsible for
Mouse model of glycogen storage disease type III.
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Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of the glycogen debranching enzyme (GDE), which is encoded by the Agl gene. GDE deficiency leads to the pathogenic accumulation of phosphorylase limit dextrin (PLD), an abnormal glycogen, in the liver, heart, and skeletal
Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
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BACKGROUND
The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients.
METHODS
Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were
Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.
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A review of the case histories of 19 Japanese patients with enzymatically proven glycogen storage disease (GSD) III who developed muscular symptoms at various ages illustrates the phenotypic variability of this disease. There seem to be 4 subgroups of GSD III with muscle involvement according to the
Diet therapy in severe clinical expression of debrancher deficiency.
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An eleven year old boy was referred because of sudden loss of consciousness, muscular weakness, poor general health, severe hypoglycemia with seizures and hepatomegaly. Response to oral glucose and galactose increased blood lactic acid and glucose at different times. Fasting values of blood lactic
کاملترین پایگاه داده گیاهان دارویی با پشتیبانی علمی
- به 55 زبان کار می کند
- درمان های گیاهی با پشتوانه علم
- شناسایی گیاهان توسط تصویر
- نقشه GPS تعاملی - گیاهان را در مکان نشان دهید (به زودی)
- انتشارات علمی مربوط به جستجوی خود را بخوانید
- گیاهان دارویی را با توجه به اثرات آنها جستجو کنید
- علایق خود را سازماندهی کنید و با تحقیقات اخبار ، آزمایشات بالینی و حق ثبت اختراع در جریان باشید
علامت یا بیماری را تایپ کنید و در مورد گیاهانی که ممکن است به شما کمک کنند ، بخوانید ، یک گیاه تایپ کنید و بیماری ها و علائمی را که در برابر آن استفاده می شود ، ببینید.
* کلیه اطلاعات براساس تحقیقات علمی منتشر شده است
