Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types.
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Age Factors↗
Biomedical subjects
A G Engel
Publications and source records attributed to A G Engel.
Lipid storage myopathy responsive to prednisone.
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Adult↗
Histometric study of neuromuscular junction ultrastructure. I. Myasthenia gravis.
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Action Potentials↗
Histometric study of neuromuscular junction ultrastructure. II. Myasthenic syndrome.
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Adult↗
Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis.
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Adult↗
Fingerprint body myopathy, a newly recognized congenital muscle disease.
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Aspartate Aminotransferases↗
Neuromuscular manifestations of Graves' disease.
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Adult↗
Histometric analysis of the ultrastructure of the neuromuscular junction in myasthenia gravis and in the myasthenic syndrome.
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Acetylcholine↗
Observations on organization of Z-disk components and on rod-bodies of Z-disk origin.
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Aldehydes↗
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.
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Adolescent↗
Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.
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Adult↗
Experimental chloroquine myopathy.
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Acid Phosphatase↗
Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls.
Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM deficiency. A relatively low muscle AM activity in myxoedema myopathy is confirmed. In human muscle, the K(m) of the enzyme for maltose hydrolysis is 7·2 to 9 × 10(-3)M. A modification of the enzyme assay based on this fact is recommended.
Biopsy↗
Structure and composition of nemaline rods: evidence that they represent replicating Z disk.
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Aldehydes↗
Locating motor end plates for electron microscopy.
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Biopsy↗
Acid maltase deficiency: comparison of infantile, childhood, and adult types.
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Adult↗
The cytoplasmic body: another structural anomaly of the Z disk.
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Adenosine Triphosphatases↗