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Adult-Onset Acid Maltase Deficiency
New England Journal of Medicine, 1976 Valerie Askanas, W K Engel, Dimauro S
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Residual acid maltase activity in late‐onset acid maltase deficiency
Neurology, 1977Residual acid maltase activity was found by a sensitive fluorometric assay in muscle biopsies from 15 patients with late-onset acid maltase deficiency (mean, 6.91 percent; range, 2.4 to 12.2) but not in biopsy or autopsy muscle from three patients with the infantile form. Electrophoresis, kinetic characteristics, and subcellular fractionation indicated
M, Mehler, S, DiMauro
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Acid Maltase Deficiency in Adults
European Neurology, 20083 adult women with distinct clinical pictures of progressive myopathy were studied. The morphological findings of biopsied skeletal muscle suggested the diagnosis of type II glycogenosis. Biochemical analysis confirmed a profound deficiency of α-l,4-glucosidase activity.
B. Bertagnolio +5 more
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ACID MALTASE DEFICIENCY IN ADULTS
Brain, 1985Five patients with adult onset acid maltase deficiency are described. All patients had developed their initial pelvic girdle symptoms late in the second or early in the third decade and some years later developed signs of respiratory insufficiency. Typically they were tall, had weak and wasted paraspinal and gluteal muscles with lower limb weakness ...
P S, Trend +5 more
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ACID MALTASE DEFICIENCY AND RELATED MYOPATHIES
Neurologic Clinics, 2000There are 11 glycogen diseases (GSD), nine of which are associated with myopathy. Most of these glycogen storage myopathies are associated with dynamic symptoms and signs in that the major neuromuscular complaints are exercise-induced muscle pain, cramps, and myoglobinura (e.g., GSD V or McArdle's disease associated with myophosphorylase deficiency ...
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Multiple neutral maltase activities in normal and acid maltase-deficient human muscle
Experimental Neurology, 1984The subcellular distribution and isoelectric focusing profile of neutral maltase were investigated in human skeletal muscle from controls and patients with acid maltase deficiency. After subcellular fractionation of normal muscle by differential centrifugation, 75% of the neutral maltase activity was soluble and 13% sedimented with a "microsomal ...
S, Shanske, N, Bresolin, S, DiMauro
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Adult‐onset acid maltase deficiency: A postmortem study
Muscle & Nerve, 1978AbstractIn a postmortem study of a patient with adult‐onset acid maltase deficiency (AMD), morphological abnormalities were confined to skeletal muscle and consisted of a vacuolar myopathy. Acid maltase activity, however, was approximately 6% of normal in muscle, liver, and brain, and 3% of normal in heart.
S, DiMauro +4 more
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Acid maltase deficiency in adults presenting as respiratory failure
The American Journal of Medicine, 1978During the past nine years 10 patients with the adult form of acid maltase deficiency have been observed at the Mayo Clinic. Three of the adults presented with respiratory failure. In all three the respiratory manifestations dominated the clinical picture and the cause of the respiratory failure (muscle weakness) and the underlying myopathy (glycogen ...
E C, Rosenow, A G, Engel
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Respiratory Insufficiency in Adult-Type Acid Maltase Deficiency
Southern Medical Journal, 1993AMD is a glycogen storage disease that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy that may resemble polymyositis or limb girdle muscular dystrophy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of ...
N A, Moufarrej, T E, Bertorini
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Respiratory Insufficiency in Adult-Onset Acid Maltase Deficiency
Southern Medical Journal, 1987Although the adult form of acid maltase deficiency is characterized by weakness of the limb girdle muscles, weakness of the respiratory muscles out of proportion to that of the limb muscles may make the diagnosis less obvious. We present four patients aged 35 to 57 with respiratory muscle weakness associated with signs of cor pulmonale and symptoms of ...
E D, Sivak +4 more
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