-
1
-
-
0023615870
-
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder
-
Berl
-
Bardosi A, Creutzfeldt W, DiMauro S, et al : Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 74 : 248-2558, 1987
-
(1987)
Acta Neuropathol
, vol.74
, pp. 248-2558
-
-
Bardosi, A.1
Creutzfeldt, W.2
Dimauro, S.3
-
2
-
-
0020567546
-
Oculogastrointestinal muscular dystrophy
-
Ionasescu V : Oculogastrointestinal muscular dystrophy. Am J Med Genet 15 : 103-112, 1983
-
(1983)
Am J Med Genet
, vol.15
, pp. 103-112
-
-
Ionasescu, V.1
-
3
-
-
0025128307
-
Polyneuropathy, opthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction : POLIP syndrome
-
Simon LT, Horoupian DS, Dorfman LJ, et al : Polyneuropathy, opthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction : POLIP syndrome. Ann Neurol 28 : 349-360, 1990
-
(1990)
Ann Neurol
, vol.28
, pp. 349-360
-
-
Simon, L.T.1
Horoupian, D.S.2
Dorfman, L.J.3
-
4
-
-
0000511618
-
Progressive external ophthalmoplegia and ocular myopathies
-
ed by Vinkens PJ, Bruyn GW, Klawans HL, et al, Myopathies, Elsevier, Amsterdam
-
Rowland LP : Progressive external ophthalmoplegia and ocular myopathies. In Handbook of clinical neurology, ed by Vinkens PJ, Bruyn GW, Klawans HL, et al, vol 62, Myopathies, Elsevier, Amsterdam, 1992, pp 287-329
-
(1992)
Handbook of Clinical Neurology
, vol.62
, pp. 287-329
-
-
Rowland, L.P.1
-
5
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, et al : Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44 : 721-727, 1994
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
-
6
-
-
0019847308
-
Chronic intestinal pseudo-obstruction syndromes
-
Schuffler MD : Chronic intestinal pseudo-obstruction syndromes. Med Clin North Am 65 : 1331-1358, 1981
-
(1981)
Med Clin North Am
, vol.65
, pp. 1331-1358
-
-
Schuffler, M.D.1
-
7
-
-
6844238313
-
-
Japanese source
-
-
-
-
8
-
-
6844238312
-
-
Japanese source
-
-
-
-
9
-
-
6844244742
-
-
Japanese source
-
-
-
-
10
-
-
6844248678
-
-
Japanese source
-
-
-
-
11
-
-
0019414141
-
Intestinal clearance of α1-antitrypsin. A sensitive method for the detection of protein-losing enteropathy
-
Florent C, L'Hirondel C, Desmazures C, et al : Intestinal clearance of α1-antitrypsin. A sensitive method for the detection of protein-losing enteropathy. Gastroenterology 81 : 777-780, 1981
-
(1981)
Gastroenterology
, vol.81
, pp. 777-780
-
-
Florent, C.1
L'Hirondel, C.2
Desmazures, C.3
-
12
-
-
0002980822
-
Protein-losing gastroenteropathy
-
ed by Haubrich WS, Schaffner F, Berk JE, WB Saunders, Philadelphia
-
Goldberg RI, Calleja GA : Protein-losing gastroenteropathy. In Bockus gastroenterology, 5th ed, ed by Haubrich WS, Schaffner F, Berk JE, vol 2, WB Saunders, Philadelphia, 1995, pp 1072-1086
-
(1995)
Bockus Gastroenterology, 5th Ed
, vol.2
, pp. 1072-1086
-
-
Goldberg, R.I.1
Calleja, G.A.2
-
13
-
-
0018092147
-
An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity
-
Godwin-Austen RB, Robinson A, Evans K, et al : An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity. J Neurol Sci 39 : 85-98, 1978
-
(1978)
J Neurol Sci
, vol.39
, pp. 85-98
-
-
Godwin-Austen, R.B.1
Robinson, A.2
Evans, K.3
-
14
-
-
0019495012
-
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease
-
Ny
-
Haas RH, Chir B, Robinson A, et al: An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology (Ny) 31 : 852-859, 1981
-
(1981)
Neurology
, vol.31
, pp. 852-859
-
-
Haas, R.H.1
Chir, B.2
Robinson, A.3
-
15
-
-
0023730701
-
An unusual neurological disorder with abnormal copper metabolism
-
Ono S, Kurisaki H : An unusual neurological disorder with abnormal copper metabolism. J Neurol 235 : 397-399, 1988
-
(1988)
J Neurol
, vol.235
, pp. 397-399
-
-
Ono, S.1
Kurisaki, H.2
-
16
-
-
0026602653
-
Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia : A muscular biochemical study of a mitochondrial disorder
-
Li V, Hostein J, Romero NB, et al : Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia : a muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 37 : 456-463, 1992
-
(1992)
Dig Dis Sci
, vol.37
, pp. 456-463
-
-
Li, V.1
Hostein, J.2
Romero, N.B.3
-
17
-
-
0001015435
-
MNGIE syndrome : Report of 2 new patients
-
Blake D, Lombes A, Minetti C, et al : MNGIE syndrome : report of 2 new patients (abstr). Neurology 40 (supp1 1) : 294, 1990
-
(1990)
Neurology
, vol.40
, Issue.1 SUPPL.
, pp. 294
-
-
Blake, D.1
Lombes, A.2
Minetti, C.3
-
18
-
-
0343392495
-
Myo-neurogastro-intestinal disease and encephalopathy (MNGIE syndrome) : A patient with multiple deletions of mitochondrial DNA
-
Sabatelli M, Servidei S, Ricci E, et al : Myo-neurogastro-intestinal disease and encephalopathy (MNGIE syndrome) : a patient with multiple deletions of mitochondrial DNA (abstr). Neurology 42 (suppl 3) : 418, 1992
-
(1992)
Neurology
, vol.42
, Issue.3 SUPPL.
, pp. 418
-
-
Sabatelli, M.1
Servidei, S.2
Ricci, E.3
-
19
-
-
0027498499
-
Multiple mitochondrial DNA deletions in myo-neurogastrointestinal encephalopathy syndrome
-
Johns DR, Threlkeld AB, Miller NR, et al : Multiple mitochondrial DNA deletions in myo-neurogastrointestinal encephalopathy syndrome (letter). Am J Ophthalmol 115 : 108-109, 1993
-
(1993)
Am J Ophthalmol
, vol.115
, pp. 108-109
-
-
Johns, D.R.1
Threlkeld, A.B.2
Miller, N.R.3
-
20
-
-
4243963522
-
Thr gene of mtDNA : A new mutation associated with mitochondrial myo-neurogastrointestinal encephalopathy (MNGIE)
-
Thr gene of mtDNA : a new mutation associated with mitochondrial myo-neurogastrointestinal encephalopathy (MNGIE) (abstr). Neurology 45 (suppl 4) : A244-245, 1995
-
(1995)
Neurology
, vol.45
, Issue.4 SUPPL.
-
-
Silvestri, G.1
Rana, M.2
Servidei, S.3
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