-
3
-
-
0021337412
-
Propionil carnitine excretion in propionic and methylmalonic acidurias: A cause of carnitine deficiency
-
Di Donato S, Rimoldi M, Garavaglia B, Uziel G. Propionil carnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 1984;139:13-21
-
(1984)
Clin Chim Acta
, vol.139
, pp. 13-21
-
-
Di Donato, S.1
Rimoldi, M.2
Garavaglia, B.3
Uziel, G.4
-
4
-
-
0015800677
-
Muscle carnitine palmityl transferase deficiency and myoglobinuria
-
Di Mauro S, Di Mauro PM. Muscle carnitine palmityl transferase deficiency and myoglobinuria. Science 1973;182:929-931.
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
Di Mauro, S.1
Di Mauro, P.M.2
-
5
-
-
0023429777
-
Cytocromo C oxidase deficiency in Leigh syndrome
-
Di Mauro S, Servidei S, Zenani M, Di Rocco M, De Vivo DC, Di Donate S, Uziel G. Cytocromo C oxidase deficiency in Leigh syndrome. Ann Neural 1987;22:498-506.
-
(1987)
Ann Neural
, vol.22
, pp. 498-506
-
-
Di Mauro, S.1
Servidei, S.2
Zenani, M.3
Di Rocco, M.4
De Vivo, D.C.5
Di Donate, S.6
Uziel, G.7
-
6
-
-
3142618712
-
Fuels for exercise clues from disorders of glycogen and lipid metabolism
-
Serratrice G et al. (eds). New York. Raven Press
-
Di Mauro S, Bresolin N, Papadimitriou A. Fuels for exercise clues from disorders of glycogen and lipid metabolism. En: Serratrice G et al. (eds). Neuromuscular diseases. New York. Raven Press, 1984; 45-50.
-
(1984)
Neuromuscular Diseases
, pp. 45-50
-
-
Di Mauro, S.1
Bresolin, N.2
Papadimitriou, A.3
-
7
-
-
0020540868
-
Hypoglycemia, hepatic disfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsibe to medium chain triglyceride diet
-
Glasgow AM, Engel AG, Bier DM. Hypoglycemia, hepatic disfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsibe to medium chain triglyceride diet. Pediatr Res 1983;17:319-326.
-
(1983)
Pediatr Res
, vol.17
, pp. 319-326
-
-
Glasgow, A.M.1
Engel, A.G.2
Bier, D.M.3
-
8
-
-
0026076169
-
Short-chain L-3-Hydroxyacyl-Co A Dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
-
Tein I, De Vivo DC, Hale DE, Clarke JTR, Zinman H, Laxer R, Shore A, Di Mauro S. Short-chain L-3-Hydroxyacyl-Co A Dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 1991;30:415-419.
-
(1991)
Ann Neurol
, vol.30
, pp. 415-419
-
-
Tein, I.1
De Vivo, D.C.2
Hale, D.E.3
Clarke, J.T.R.4
Zinman, H.5
Laxer, R.6
Shore, A.7
Di Mauro, S.8
-
9
-
-
0026410146
-
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
-
Hugh, Bove KE, Sukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991;325:1862-1864.
-
(1991)
N Engl J Med
, vol.325
, pp. 1862-1864
-
-
Hugh1
Bove, K.E.2
Sukup, S.3
-
10
-
-
0023720123
-
Hepatic and muscular presentation of carnitine palmytoyltransferase deficiency: Two distinct entities
-
Demaugre F, Bonnefont IP, Mitchel G. Hepatic and muscular presentation of carnitine palmytoyltransferase deficiency: two distinct entities. Pediatr Res 1988;24:308-311.
-
(1988)
Pediatr Res
, vol.24
, pp. 308-311
-
-
Demaugre, F.1
Bonnefont, I.P.2
Mitchel, G.3
-
11
-
-
0026718314
-
Fatty acid oxidation disorders: A new class of metabolic diseases
-
Hale DE, Bennett MJ. Fatty acid oxidation disorders: A new class of metabolic diseases. J Pediatr 1992;121:1-11.
-
(1992)
J Pediatr
, vol.121
, pp. 1-11
-
-
Hale, D.E.1
Bennett, M.J.2
-
12
-
-
0025356207
-
Immunocuantitative analysis of human carnitine palmitoyltransferase I and II defects
-
Demaugre F, Bonnefont JP, Cepanec C. Immunocuantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 1990;27:497-500.
-
(1990)
Pediatr Res
, vol.27
, pp. 497-500
-
-
Demaugre, F.1
Bonnefont, J.P.2
Cepanec, C.3
-
13
-
-
0025906746
-
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death
-
Demaugre F, Bonnefont JP, Colonna M. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. J Clin Invest 1991;87:859-864.
-
(1991)
J Clin Invest
, vol.87
, pp. 859-864
-
-
Demaugre, F.1
Bonnefont, J.P.2
Colonna, M.3
-
14
-
-
0027157099
-
Recurrent metabolic decompensation in profund carnitine palmitoyltransferase II deficiency
-
Elpeleg ON, Joseph A, Branski D. Recurrent metabolic decompensation in profund carnitine palmitoyltransferase II deficiency. J Pediatr 1993;122:917-919.
-
(1993)
J Pediatr
, vol.122
, pp. 917-919
-
-
Elpeleg, O.N.1
Joseph, A.2
Branski, D.3
-
15
-
-
85047675848
-
Mechanism of arrhythmias induced by palmitylcarnitine in guinea pig papillary muscle
-
Skata K, Hayashi H, Kobayashi A. Mechanism of arrhythmias induced by palmitylcarnitine in guinea pig papillary muscle. Cardiovasc Res 1989;23:505-511.
-
(1989)
Cardiovasc Res
, vol.23
, pp. 505-511
-
-
Skata, K.1
Hayashi, H.2
Kobayashi, A.3
|