-
1
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver CR, Beaudet AL, Sly WS, Valle MD, eds. New York: McGraw-Hill
-
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle MD, eds. The metabolic and molecular bases of inherited diseases, 7th ed. New York: McGraw-Hill, 1995:1535-1609.
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases, 7th Ed.
, pp. 1535-1609
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
2
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursor and exocrine pancreatic dysfunction
-
Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursor and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-984.
-
(1979)
J Pediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
-
3
-
-
0025968682
-
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
-
McShane MA, Hammans SR, Sweeney M, et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991;48:39-42.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 39-42
-
-
McShane, M.A.1
Hammans, S.R.2
Sweeney, M.3
-
4
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
-
Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995;4:1327-1330.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1327-1330
-
-
Rötig, A.1
Bourgeron, T.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
-
5
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
6
-
-
0028277422
-
Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy
-
Blatt J, Katerji A, Barmada M, Wenger S, Penchansky L. Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy. Br J Haematol 1994;86: 207-209.
-
(1994)
Br J Haematol
, vol.86
, pp. 207-209
-
-
Blatt, J.1
Katerji, A.2
Barmada, M.3
Wenger, S.4
Penchansky, L.5
-
7
-
-
0023429777
-
Cytochrome c oxidase in Leigh syndrome
-
Di Mauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase in Leigh syndrome. Ann Neurol 1987;22:498-506.
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
Di Mauro, S.1
Servidei, S.2
Zeviani, M.3
-
8
-
-
0029919608
-
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
-
Vazquez-Memije ME, Shanske S, Santorelli FM, et al. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. J Inherit Metab Dis 1996; 19:43-50.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 43-50
-
-
Vazquez-Memije, M.E.1
Shanske, S.2
Santorelli, F.M.3
-
9
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38:1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
10
-
-
0025044656
-
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
-
Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990;18:561-567.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 561-567
-
-
Mita, S.1
Rizzuto, R.2
Moraes, C.T.3
-
11
-
-
0029032418
-
Pearson's marrow/pancreas syndrome: Haematological features associated with deletion and duplication of mitochondrial DNA
-
Smith OP, Hann IM, Woodward CE, Brockington M. Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA. Br J Haematol 1995;90:469-472.
-
(1995)
Br J Haematol
, vol.90
, pp. 469-472
-
-
Smith, O.P.1
Hann, I.M.2
Woodward, C.E.3
Brockington, M.4
-
12
-
-
0027403570
-
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
-
Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 1993;2:23-30.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
Morten, K.4
Land, J.5
Brown, G.6
-
13
-
-
0025071944
-
Juvenile Pearson syndrome
-
Blaw ME, Mize CE. Juvenile Pearson syndrome. J Child Neurol 1990;5:187-190.
-
(1990)
J Child Neurol
, vol.5
, pp. 187-190
-
-
Blaw, M.E.1
Mize, C.E.2
-
14
-
-
0026646537
-
Brain lesions of the Leigh-type distribution associated with a mitochondropathy of Pearson's syndrome: Light and electron microscopic study
-
Berl
-
Yamadori I, Kurose A, Kobayashi S, Ohmori M, Imai T. Brain lesions of the Leigh-type distribution associated with a mitochondropathy of Pearson's syndrome: light and electron microscopic study. Acta Neuropathol (Berl) 1992;84:337-341.
-
(1992)
Acta Neuropathol
, vol.84
, pp. 337-341
-
-
Yamadori, I.1
Kurose, A.2
Kobayashi, S.3
Ohmori, M.4
Imai, T.5
-
15
-
-
0027454928
-
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects
-
Sparaco M, Bonilla E, DiMauro S, Powers JM. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 1993;52:1-10.
-
(1993)
J Neuropathol Exp Neurol
, vol.52
, pp. 1-10
-
-
Sparaco, M.1
Bonilla, E.2
DiMauro, S.3
Powers, J.M.4
|