-
2
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
-
Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776.
-
(1962)
J Clin Invest
, vol.41
, pp. 1776
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
3
-
-
0002224776
-
Clinical presentation of respiratory chain deficiency
-
th edn. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New-York: McGraw-Hill
-
th edn. In; Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New-York: McGraw-Hill; 2001. p. 2261-74.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2261-2274
-
-
Munnich, A.1
Rötig, A.2
Cormier-Daire, V.3
Rustin, P.4
-
4
-
-
85031141115
-
Présentations cliniques des cytopathies mitochondriales: Corrélations phénotype-génotype?
-
Paris: Flammarion Médecine Sciences
-
de Lonlay P, Rötig A, Saudubray JM, Rustin P, Munnich A. Présentations cliniques des cytopathies mitochondriales: corrélations phénotype-génotype ? Journées parisiennes de pédiatrie. Paris: Flammarion Médecine Sciences; 2000. p. 113-22.
-
(2000)
Journées Parisiennes de Pédiatrie
, pp. 113-122
-
-
De Lonlay, P.1
Rötig, A.2
Saudubray, J.M.3
Rustin, P.4
Munnich, A.5
-
5
-
-
25744443810
-
Stratégie d'investigation des cytopathies mitochondriales: Choix des tissus, choix des méthodes
-
Paris: Flammarion Médecine Sciences
-
Rötig A, Rustin P, Chrétien D, Munnich A. Stratégie d'investigation des cytopathies mitochondriales: choix des tissus, choix des méthodes. Journées parisiennes de pédiatrie. Paris: Flammarion Médecine Sciences; 2000. p. 123-30.
-
(2000)
Journées Parisiennes de Pédiatrie
, pp. 123-130
-
-
Rötig, A.1
Rustin, P.2
Chrétien, D.3
Munnich, A.4
-
6
-
-
0034085995
-
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls
-
Das AM, Fingerhut R, Wanders RJA, Ullrich K. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. Eur J Pediatr 2000;159:243-6.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 243-246
-
-
Das, A.M.1
Fingerhut, R.2
Wanders, R.J.A.3
Ullrich, K.4
-
7
-
-
0033943231
-
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzymeA dehydrogenase deficiency
-
Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, et al. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzymeA dehydrogenase deficiency. J Pediatr 2000;136:251-4.
-
(2000)
J Pediatr
, vol.136
, pp. 251-254
-
-
Enns, G.M.1
Bennett, M.J.2
Hoppel, C.L.3
Goodman, S.I.4
Weisiger, K.5
Ohnstad, C.6
-
8
-
-
0013874815
-
Glycogénose hépatorénale avec tubulopathie complexe: Deux observations d'une entité nouvelle
-
Odièvre M. Glycogénose hépatorénale avec tubulopathie complexe: deux observations d'une entité nouvelle. Rev Int Hepatol 1966;16:1-70.
-
(1966)
Rev Int Hepatol
, vol.16
, pp. 1-70
-
-
Odièvre, M.1
-
9
-
-
0030667885
-
Mutations in Glut2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
-
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. Mutations in Glut2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 1997;17:324-6.
-
(1997)
Nat Genet
, vol.17
, pp. 324-326
-
-
Santer, R.1
Schneppenheim, R.2
Dombrowski, A.3
Götze, H.4
Steinmann, B.5
Schaub, J.6
-
10
-
-
0036746805
-
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome
-
Odièvre MH, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, et al. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. J Inherit Metab Dis 2002;25:379-84.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 379-384
-
-
Odièvre, M.H.1
Lombès, A.2
Dessemme, P.3
Santer, R.4
Brivet, M.5
Chevallier, B.6
-
11
-
-
0033844020
-
Mitochondrial activity in Pompe's disease
-
Selak MA, De Chadarevian JP, Melvin JJ, Grover WD, Salganicoff L, Kaye EM. Mitochondrial activity in Pompe's disease. Pediatr Neurol 2000;23:54-7.
-
(2000)
Pediatr Neurol
, vol.23
, pp. 54-57
-
-
Selak, M.A.1
De Chadarevian, J.P.2
Melvin, J.J.3
Grover, W.D.4
Salganicoff, L.5
Kaye, E.M.6
-
12
-
-
0035990290
-
Primary and secondary defects of the mitochondrial respiratory chain
-
Schapira AH. Primary and secondary defects of the mitochondrial respiratory chain. J Inherit Metab Dis 2002;25:207-14.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 207-214
-
-
Schapira, A.H.1
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