Muscle involvement in pyruvate dehydrogenase complex (PDHC) deficiency
Tài liệu tham khảo
Blass, 1975, Disorders of pyruvate metabolism, Neurology, 25, 280
Land, 1979, Mitochondrial myopathies, Biochem Soc Trans, 7, 231, 10.1042/bst0070231
Blass, 1970, A defect in pyruvate decarboxylase in a child with an intermittent movement disorder, J Clin Invest, 49, 423, 10.1172/JCI106251
Blass, 1972, An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis, J Clin Invest, 51, 1845, 10.1172/JCI106986
Blass, 1971, Clinical studies of a patient with pyruvate decarboxylase deficiency, Arch Neurol, 25, 449, 10.1001/archneur.1971.00490050083007
Evans, 1984, Episodic weakness in pyruvate decaboxylase deficiency, J Pediatr, 105, 961, 10.1016/S0022-3476(84)80090-6
Farrell, 1975, Absence of pyruvate decarboxylase activity in man: A cause of congenital lactic acidosis, Science, 187, 1082, 10.1126/science.803713
Strömme, 1976, Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate metabolism, Pediatr Res, 10, 62, 10.1203/00006450-197601000-00012
Falk, 1976, Ketonic diet in the management of pyruvate dehydrogenase deficiency, Pediatrics, 58, 713, 10.1542/peds.58.5.713
Oka, 1976, Citrate treatment in a patient with pyruvate decarboxylase deficiency, Tohoku J Exp Med, 118, 131, 10.1620/tjem.118.131
Lonsdale, 1969, Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria, Pediatrics, 43, 1025, 10.1542/peds.43.6.1025
Toshima, 1983, Histological changes of muscle in a patient with pyruvate dehydrogenase deficiency, Brain Dev (Tokyo), 5, 571, 10.1016/S0387-7604(83)80062-X
Suzuki, 1983, A histological study of mitochondrial myopathy in patients having partial deficiency of pyruvate dehydrogenase complex (in Japanese), No To Hattatus (Tokyo), 15, 290
Iwamoto, 1981, A case of lipid storage myopathy with lactic acidosis induced by exercise (in Japanese), No To Hattatsu (Tokyo), 13, 361
Matsuishi, 1978, Mitochondrial myopathy associated with chronic lactic acidemia (in Japanese), No To Hattatsu (Tokyo), 10, 477
Maeda, 1985, A case of lactic acid and pyruvate acidemia due to pyruvate dehydrogenase complex deficiency (in Japanese), Nihon Shonika-Gakkai Zasshi (Tokyo), 89, 246
Swash, 1978, The significance of ragged-red fibers in neuromuscular disease, J Neurol Sci, 38, 347, 10.1016/0022-510X(78)90141-7
Okamura-Oho, 1986, A case of pyruvate dehydrogenase complex deficiency with feeding difficulty and infantile, spasms (in Japanese), Shonika Shinryo, 49, 2133
Toshima, 1984, In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase, J Inher Metab Dis, 7, 143, 10.1007/BF01801778
Toshima, 1985, Diagonosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle, Neurology, 35, 1670, 10.1212/WNL.35.11.1670
Brooke, 1970, Muscle fiber types: How many and what kind?, Arch Neurol, 23, 369, 10.1001/archneur.1970.00480280083010
Jerusalem, 1975, Human muscle fiber fine structure: Morphometric data on controls, Neurology, 25, 127, 10.1212/WNL.25.2.127
Kark, 1978, Evidence for a primary defect of lipamide dehydrogenase in Friedreich's ataxia, Vol 21, 163
Kark, 1978, Studies of the pathophysiology of pyruvate dehydrogenase deficiency, Vol 21, 181
Olson, 1972, Oculocraniosomatic neuromuscular disease with “ragged-red” fibers — histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia, Arch Neurol, 26, 193, 10.1001/archneur.1972.00490090019001
Morgan-Hughes, 1982, Mitochondrial myopathies, 309
Fukuhara, 1980, Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or a syndrome?, J Neurol Sci, 47, 117, 10.1016/0022-510X(80)90031-3
Dubowitz, 1970, Central core disease of muscle: Clinical, histochemical and electron microscopic studies of an affected mother and child, Brain, 93, 133, 10.1093/brain/93.1.133
Crosby, 1974, “Ragged-red” fibers in Leigh's disease, Neurology, 24, 49, 10.1212/WNL.24.1.49
DiMauro, 1985, Mitochondrial myopathies, AnnNeurol, 17, 521
Nonaka, 1986, Mitochondrial myopathy in children (in Japanese), Shinkei Naika (Tokyo), 24, 117
Miyabayashi, 1986, Pyruvate dehydrogenase complex deficiency
Wijngaarden, 1967, Skeletal muscle diseases with abnormal mitochondria, Brain, 90, 577, 10.1093/brain/90.3.577
Cullen, 1975, The ultrastructure of normal human muscle in relation to fiber type, J Neurol Sci, 25, 43, 10.1016/0022-510X(75)90185-9
Eisenberg, 1983, Quantitative ultrastructure of mammalian skeletal muscle, 73
Evans, 1983, Human muscle pyruvate dehydrogenase activity, Neurology, 33, 51, 10.1212/WNL.33.1.51
Colling-Saltin, 1978, Enzyme histochemistry on skeletal muscle of the human foetus, J Neurol Sci, 39, 169, 10.1016/0022-510X(78)90121-1
Nonaka, 1978, The significance of type 2C fibers in biopsied muscle in various infantile neuromuscular disorders (in Japanese), No To Hattatsu (Tokyo), 10, 439
Nonaka, 1981, The significance of type 2C muscle fibers in Duchenne muscular dystrophy, Muscle Nerve, 4, 326, 10.1002/mus.880040409
Dubowitz, 1973