-
1
-
-
0033983728
-
The role of energy metabolism defects in cardiomyopathy: from inborn errors to ischemia
-
Winter S.C., and Buist N.R.M. The role of energy metabolism defects in cardiomyopathy: from inborn errors to ischemia. Am Heart J 139 (2000) 63-69
-
(2000)
Am Heart J
, vol.139
, pp. 63-69
-
-
Winter, S.C.1
Buist, N.R.M.2
-
2
-
-
0025365102
-
Subnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study
-
Schafer J., and Reichmann H. Subnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study. J Neurol 237 (1990) 213-215
-
(1990)
J Neurol
, vol.237
, pp. 213-215
-
-
Schafer, J.1
Reichmann, H.2
-
3
-
-
0023156622
-
Clinical varieties of carnitine and carnitine palmitoyl transferase deficiency
-
Angelini C., Trevisan C., Isaya G., Pegolo G., and Vergani L. Clinical varieties of carnitine and carnitine palmitoyl transferase deficiency. Clin Biochem 20 (1987) 1-7
-
(1987)
Clin Biochem
, vol.20
, pp. 1-7
-
-
Angelini, C.1
Trevisan, C.2
Isaya, G.3
Pegolo, G.4
Vergani, L.5
-
4
-
-
0003226221
-
Inborn errors of metabolism of the nervous system
-
Bradley W.G., Daroff R.B., Fenichel G.M., and Marsden C.D. (Eds), Butterworth-Heinemann, USA
-
Evans O.B., Parker C.C., Haas R.H., Naidu S., Moser H.W., and Bock H.O. Inborn errors of metabolism of the nervous system. In: Bradley W.G., Daroff R.B., Fenichel G.M., and Marsden C.D. (Eds). Neurology in clinical practice vol. 2 (2000), Butterworth-Heinemann, USA 1607-1608
-
(2000)
Neurology in clinical practice
, vol.2
, pp. 1607-1608
-
-
Evans, O.B.1
Parker, C.C.2
Haas, R.H.3
Naidu, S.4
Moser, H.W.5
Bock, H.O.6
-
5
-
-
0027459172
-
Plasma carnitine insufficiency and effectiveness of l-carnitine therapy in patients with mitochondrial myopathy
-
Campos Y., Huertas R., Lorenzo G., Bautista J., Gutierrez E., Aparicio M., et al. Plasma carnitine insufficiency and effectiveness of l-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve 16 (1993) 150-153
-
(1993)
Muscle Nerve
, vol.16
, pp. 150-153
-
-
Campos, Y.1
Huertas, R.2
Lorenzo, G.3
Bautista, J.4
Gutierrez, E.5
Aparicio, M.6
-
6
-
-
0023255772
-
Plasma carnitine deficiency. Clinical observations in 51 pediatric patients
-
Winter S.C., Szabo-Aczel S., Curry C.J., Hutchingson H.T., Hogue R., and Shug A. Plasma carnitine deficiency. Clinical observations in 51 pediatric patients. Am J Dis Child 141 (1987) 660-665
-
(1987)
Am J Dis Child
, vol.141
, pp. 660-665
-
-
Winter, S.C.1
Szabo-Aczel, S.2
Curry, C.J.3
Hutchingson, H.T.4
Hogue, R.5
Shug, A.6
-
7
-
-
0021349293
-
Systemic carnitine deficiency: clinical, biochemical, and morphological cure with l-carnitine
-
Di Donato S., Pelucchetti D., Rimoldi M., Mora M., Garavaglia B., and Finocchiaro G. Systemic carnitine deficiency: clinical, biochemical, and morphological cure with l-carnitine. Neurology 34 (1984) 157-162
-
(1984)
Neurology
, vol.34
, pp. 157-162
-
-
Di Donato, S.1
Pelucchetti, D.2
Rimoldi, M.3
Mora, M.4
Garavaglia, B.5
Finocchiaro, G.6
-
8
-
-
2242438034
-
Carnitine deficiency myopathy: a case of late diagnosis
-
Rico Corral M.A., de la Vega Vazquez J.M., Holgado Silva C., Aznar Martin A., and Zamora Madaria E. Carnitine deficiency myopathy: a case of late diagnosis. An Med Interna 19 (2002) 415-418
-
(2002)
An Med Interna
, vol.19
, pp. 415-418
-
-
Rico Corral, M.A.1
de la Vega Vazquez, J.M.2
Holgado Silva, C.3
Aznar Martin, A.4
Zamora Madaria, E.5
-
9
-
-
0019132875
-
Disorders of lipid metabolism in muscle
-
Di Mauro S., Trevisan C., and Hays A. Disorders of lipid metabolism in muscle. Muscle Nerve 3 (1980) 369-388
-
(1980)
Muscle Nerve
, vol.3
, pp. 369-388
-
-
Di Mauro, S.1
Trevisan, C.2
Hays, A.3
-
11
-
-
0021710439
-
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine
-
Chalmers R.A., Roe C.R., Stacey T.E., and Hoppel C.L. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res 18 (1984) 1325-1328
-
(1984)
Pediatr Res
, vol.18
, pp. 1325-1328
-
-
Chalmers, R.A.1
Roe, C.R.2
Stacey, T.E.3
Hoppel, C.L.4
-
12
-
-
0028811213
-
Carnitine in neonatal nutrition
-
Borum P.R. Carnitine in neonatal nutrition. J Child Neurol 10 (1995) S25-S31
-
(1995)
J Child Neurol
, vol.10
-
-
Borum, P.R.1
-
13
-
-
0018894759
-
In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency
-
Rebouche C.J., and Engel A.G. In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency. Clin Chim Acta 106 (1980) 295-300
-
(1980)
Clin Chim Acta
, vol.106
, pp. 295-300
-
-
Rebouche, C.J.1
Engel, A.G.2
-
14
-
-
0028840007
-
Atypical presentation of carnitine palmitoyl transferase deficiency as status epilepticus
-
Shintani S., Shiigai T., and Sugiyama N. Atypical presentation of carnitine palmitoyl transferase deficiency as status epilepticus. J Neurol Sci 129 (1995) 69-73
-
(1995)
J Neurol Sci
, vol.129
, pp. 69-73
-
-
Shintani, S.1
Shiigai, T.2
Sugiyama, N.3
-
15
-
-
0027319784
-
Serum carnitine concentrations in celiac disease
-
Lerner A., Gruener N., and Iancu T.C. Serum carnitine concentrations in celiac disease. Gut 34 (1993) 933-935
-
(1993)
Gut
, vol.34
, pp. 933-935
-
-
Lerner, A.1
Gruener, N.2
Iancu, T.C.3
-
16
-
-
0035934470
-
Celiac disease can be associated with severe neurological symptoms. Analysis of gliadin antibodies should be considered in suspected cases
-
Bruzelius M., Liedholm L.J., and Hellblom M. Celiac disease can be associated with severe neurological symptoms. Analysis of gliadin antibodies should be considered in suspected cases. Lakartidningen 98 (2001) 3538-3542
-
(2001)
Lakartidningen
, vol.98
, pp. 3538-3542
-
-
Bruzelius, M.1
Liedholm, L.J.2
Hellblom, M.3
-
18
-
-
0344780853
-
Reversible posterior encephalopathy possibly related to celiac disease: a vitamin-depleted brain?
-
Munchau A., and Vogel P. Reversible posterior encephalopathy possibly related to celiac disease: a vitamin-depleted brain?. Eur Neurol 41 (1999) 232-234
-
(1999)
Eur Neurol
, vol.41
, pp. 232-234
-
-
Munchau, A.1
Vogel, P.2
-
19
-
-
0024396245
-
Myoclonus and adult celiac disease
-
Tison F., Arne P., and Henry P. Myoclonus and adult celiac disease. J Neurol 236 (1989) 307-308
-
(1989)
J Neurol
, vol.236
, pp. 307-308
-
-
Tison, F.1
Arne, P.2
Henry, P.3
-
20
-
-
0023284708
-
Progressive cerebellar syndrome in adult celiac disease
-
Kristoferitsch W., and Pointner H. Progressive cerebellar syndrome in adult celiac disease. J Neurol 234 (1987) 116-118
-
(1987)
J Neurol
, vol.234
, pp. 116-118
-
-
Kristoferitsch, W.1
Pointner, H.2
-
21
-
-
0025954463
-
Coeliac disease presenting with cerebellar degeneration
-
Hermaszewski R.A., Rigby S., and Dalgleish A.G. Coeliac disease presenting with cerebellar degeneration. Postgrad Med J 67 (1991) 1023-1024
-
(1991)
Postgrad Med J
, vol.67
, pp. 1023-1024
-
-
Hermaszewski, R.A.1
Rigby, S.2
Dalgleish, A.G.3
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