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Late Infantile Acid Maltase Deficiency
Archives of Neurology, 1968CLASSICAL type II glycogenosis is a hereditary generalized glycogen storage disease, 1-3 appearing in the first few months of life. The disease is characterized by profound weakness, hypotonia, and cardiomegaly followed by failure to thrive, progressive cardiorespiratory failure, and death.
K F, Swaiman, W R, Kennedy, H S, Sauls
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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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ADULT‐ONSET ACID MALTASE DEFICIENCY IN SIBLINGS
Acta Pathologica Japonica, 1985Two siblings who developed adult form acid maltase deficiency (AMD) are reported. The elder sister, a 30‐year‐old Japanese woman whose parents are cousins was admitted because of respiratory disturbance which she noticed two years previously. The muscle histology demonstrated numerous acid phos‐phatase positive vacuoles filled with PAS positive ...
Y, Miyamoto +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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Childhood Acid Maltase Deficiency
Archives of Neurology, 1984Three children, including two siblings and a patient with sporadic glycogenosis type II (childhood form of acid maltase deficiency [AMD] ), were studied clinically, biochemically, and morphologically. In addition to a delay in developmental milestones and mild generalized muscle weakness, nasal vocalization and an electromyographic finding of abnormal ...
T, Matsuishi +3 more
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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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Obstructive Sleep Apnea Syndrome in Acid Maltase Deficiency
Chest, 1994A patient with adult acid maltase deficiency (AMD) developed severe obstructive sleep apnea (OSA) and respiratory insufficiency. Weaning failure was followed by diffuse pneumonia and death. At autopsy, profound muscle replacement by fibrofatty tissue was noted in the tongue and diaphragm, while the accessory and nonrespiratory muscles were variably ...
M L, Margolis +4 more
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