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Juvenile acid maltase deficiency presenting as paravertebral pseudotumour
European Journal of Pediatrics, 1988In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies.
T C, Iancu +4 more
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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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2004
Abstract Type II glycogenosis (glycogen storage disease[GSD-II]) is an autosomal recessive lysosomal storage disorder caused by partial or complete deficiency of acid-glucosidase activity (GAA), or acid maltase. This enzyme defect results in the accumulation of lysosomal glycogen in many tissues, with cardiac and skeletal muscle affected
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Abstract Type II glycogenosis (glycogen storage disease[GSD-II]) is an autosomal recessive lysosomal storage disorder caused by partial or complete deficiency of acid-glucosidase activity (GAA), or acid maltase. This enzyme defect results in the accumulation of lysosomal glycogen in many tissues, with cardiac and skeletal muscle affected
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Dietary treatment in late-onset acid maltase deficiency
European Journal of Pediatrics, 1997Late-onset acid maltase deficiency or glycogen storage disease type II (GSD II) is a rare disorder of intralysosomal glycogen metabolism, resulting in progressive myopathy that is secondary to increased muscle protein breakdown. Stable isotope studies in the postabsorptive state have confirmed that mean protein breakdown in GSD II is increased by 31 ...
O A, Bodamer, J V, Leonard, D, Halliday
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Adult-Onset Acid Maltase Deficiency
Archives of Neurology, 1984Electrophysiological studies were performed on aneurally cultured muscle cells from one patient with adult-onset acid maltase deficiency (AAMD) and from controls. The cells from the patient with AAMD had a higher mean resting membrane potential, a lower input resistance, and a higher incidence of action potentials at resting membrane potential than the
A J, Tahmoush +3 more
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Acid maltase deficiency (Type II glycogenosis)
Journal of the Neurological Sciences, 1976Abstract Pathological and biochemical data are reported on a 4 4 12- year-old male patient with a severe myopathic disorder, hepatomegaly, recurrent pulmonary infections ending fatally. Combined morphological and enzymatic studies on muscle biopsy led to the diagnosis of acid maltase deficiency (Type II glycogenosis).
J.J. Martin +4 more
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Infantile acid maltase deficiency
Virchows Archiv B Cell Pathology Including Molecular Pathology, 1984The 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 ...
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The spectrum and diagnosis of acid maltase deficiency
Neurology, 1973A G, Engel +3 more
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Electrical myotonia in acid maltase deficiency disease
Muscle & Nerve, 2015Sankar, Bandyopadhyay, Derrece, Reid
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