Results 121 to 130 of about 4,895 (172)
New England Journal of Medicine, 1972 Abstract A deficiency of acid maltase but not neutral maltase was observed in cultured fibroblasts obtained from six adults with glycogen-storage myopathy associated with acid maltase deficiency (A...
Corrado Angelini +2 more
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Muscle and Nerve, 1993
AbstractA 30‐year‐old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution.
Richard J Barohn +2 more
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AbstractA 30‐year‐old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution.
Richard J Barohn +2 more
exaly +3 more sources
Late Infantile Acid Maltase Deficiency
Archives of Neurology, 1968 CLASSICAL 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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Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency
Muscle and Nerve, 1994AbstractImmunocytochemistry of dystrophin, spectrin, vinculin (sarcolemmaspecific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset.
Giuseppe Vita +2 more
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ADULT‐ONSET ACID MALTASE DEFICIENCY IN SIBLINGS
Acta Pathologica Japonica, 1985 Two 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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Childhood Acid Maltase Deficiency
Archives of Neurology, 1984 Three 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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Muscle MRI in adult-onset acid maltase deficiency
Neuromuscular Disorders, 2004We report the spectrum of muscle involvement on magnetic resonance imaging in 11 patients with a molecularly confirmed diagnosis of adult-onset acid maltase deficiency at different clinical stages. Muscle magnetic resonance imaging showed a selective progressive pattern of muscle involvement with a constant involvement of the adductor magnus and ...
Anna Pichiecchio +2 more
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Infantile acid maltase deficiency
Virchows Archiv B Cell Pathology Including Molecular Pathology, 1984 The loss of normal ultrastructure of skeletal muscle during the relentless course of infantile acid maltase deficiency (AMD) is re-examined in the light of the lysosomal rupture hypothesis. This hypothesis suggests that movement and increased myofibril rigidity during contraction cause lysosomes in muscle to rupture and release glycogen and other ...
Joe L. Griffin
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Effects of a high-protein diet in acid maltase deficiency
Journal of the Neurological Sciences, 1989The effects of a high-protein diet were studied in 5 adult cases of acid maltase deficiency. Measurements of muscle strength, pulmonary function and 3-methylhistidine excretion revealed no improvement consistently attributable to the diet.
George W Padberg, A R Wintzen
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