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Enzyme replacement therapy in severe adult-onset glycogen storage disease type II
Advances in Therapy, 2008Glycogen storage disease type II (GSDII) is an autosomal recessive myopathy caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant GAA (rh-GAA) has become available for GSDII, although its effectiveness in adults remains unknown. We present a case of ERT with rhGAA in a 49-year-old
RAVAGLIA, SABRINA MARIA +8 more
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Late onset glycogen storage disease Type II with “reducing body”-like inclusions
Clinical Neuropathology, 2010Skeletal muscle tissue from 3 patients with clinical diagnosis of limb girdle muscular dystrophy revealed a vacuolar myopathy with glycogen storage and lysosomal activity. A diagnosis of late onset GSD Type II was considered. An interesting finding was the presence of round to oval eosinophilic inclusions which reduced on menadione linked a ...
N, Gayathri +5 more
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Glycogen Storage Disease, Types II, III, VIII, and IX
American Journal of Diseases of Children, 1966CORI DIVIDED the syndrome of glycogen storage disease into various types according to the enzymatic deficiency involved. 1 This classification has three immediate advantages. It rests on the most basic, most precise, and least overlapping parameter known at the present time.
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Pathology - Research and Practice, 1986
Glycogen storage disease type II Pompe (GSD II) is a lysosomal storage disease caused by an inherited deficiency of acid alpha-glucosidase. In addition to the classical infantile form of GSD II, several clinical variants are known. We describe an infant with the classical course of the disease. Our patient differs from the classical variant by the lack
K, Ullrich +3 more
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Glycogen storage disease type II Pompe (GSD II) is a lysosomal storage disease caused by an inherited deficiency of acid alpha-glucosidase. In addition to the classical infantile form of GSD II, several clinical variants are known. We describe an infant with the classical course of the disease. Our patient differs from the classical variant by the lack
K, Ullrich +3 more
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Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults
European Journal of Neurology, 2009Background: Pompe disease (Glycogen storage disorder type II) is an inherited disease because of a lack or reduced activity of the enzyme α‐1,4‐glucosidase (acid maltase). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (Genzyme Corporation, Cambridge, MA, USA) is available.Methods: Four adult patients aged between 39 and 68
T, Merk +3 more
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1986
The electrocardiographic (ECG) and echocardiographic (echo) features of Pompe’s disease [1–4] were studied in three patients: one male and two females at ages 6 days, 3 months, and 3 months, respectively, at the inception of the study. Diagnosis was made by estimation of the alpha-glucosidase activity in the leukocytes, in the urine, or in both ...
J. Lam +3 more
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The electrocardiographic (ECG) and echocardiographic (echo) features of Pompe’s disease [1–4] were studied in three patients: one male and two females at ages 6 days, 3 months, and 3 months, respectively, at the inception of the study. Diagnosis was made by estimation of the alpha-glucosidase activity in the leukocytes, in the urine, or in both ...
J. Lam +3 more
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Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Acta neurologica Belgica, 2006Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle.
van der Beek, N.A.M.E. +4 more
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Type 2 chronic inflammatory diseases: targets, therapies and unmet needs
Nature Reviews Drug Discovery, 2023P V Kolkhir +2 more
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