-
2
-
-
33644621124
-
Therapeutic approach in a case of Pearson's syndrome
-
Zaffanello M, Zamboni G. Therapeutic approach in a case of Pearson's syndrome. Minerva Pediatr 2005;57:143-6. (Pubitemid 44251889)
-
(2005)
Minerva Pediatrica
, vol.57
, Issue.3
, pp. 143-146
-
-
Zaffanello, M.1
Zamboni, G.2
-
3
-
-
0028817474
-
Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome
-
Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am J Med Genet 1995;55:372-8.
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 372-378
-
-
Inbal, A.1
Avissar, N.2
Shaklai, M.3
Kuritzky, A.4
Schejter, A.5
Ben-David, E.6
Shanske, S.7
Garty, B.Z.8
-
4
-
-
0030800458
-
The association between haematological manifestation and mtDNA deletions in Pearson syndrome
-
DOI 10.1023/A:1005378527077
-
Muraki K, Nishimura S, Goto Y, Nonaka I, Sakura N, Ueda K. The association between haematological manifestation and mtDNA deletions in Pearson syndrome. J Inherit Metab Dis 1997;20:697-703. (Pubitemid 27417644)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.5
, pp. 697-703
-
-
Muraki, K.1
-
5
-
-
33747606236
-
Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency
-
DOI 10.1203/01.pdr.0000233252.60457.cf, PII 0000645020060900000015
-
Reichenbach J, Schubert R, Horvath R, Petersen J, Futterer N, Malle E, Stumpf A, et al. Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. Pediatr Res 2006;60:321-6. (Pubitemid 44267746)
-
(2006)
Pediatric Research
, vol.60
, Issue.3
, pp. 321-326
-
-
Reichenbach, J.1
Schubert, R.2
Horvath, R.3
Petersen, J.4
Futterer, N.5
Malle, E.6
Stumpf, A.7
Gebhardt, B.R.8
Koehl, U.9
Schraven, B.10
Zielen, S.11
-
6
-
-
2442701758
-
Thrombotic microangiopathic haemolytic anaemia and antiphospholipid antibodies
-
DOI 10.1136/ard.2003.007245
-
Espinosa G, Bucciarelli S, Cervera R, Lozano M, Reverter JC, de la Red G, Gil V, et al. Thrombotic microangiopathic haemolytic anaemia and antiphospholipid antibodies. Ann Rheum Dis 2004;63:730-6. (Pubitemid 38658405)
-
(2004)
Annals of the Rheumatic Diseases
, vol.63
, Issue.6
, pp. 730-736
-
-
Espinosa, G.1
Bucciarelli, S.2
Cervera, R.3
Lozano, M.4
Reverter, J.-C.5
De La Red, G.6
Gil, V.7
Ingelmo, M.8
Font, J.9
Asherson, R.A.10
-
7
-
-
63649124202
-
MELAS syndrome as a differential diagnosis of ischemic stroke
-
Finsterer J. MELAS syndrome as a differential diagnosis of ischemic stroke. Fortschr Neurol Psychiatr 2009;77:25-31.
-
(2009)
Fortschr Neurol. Psychiatr.
, vol.77
, pp. 25-31
-
-
Finsterer, J.1
-
8
-
-
34548686839
-
Hematological manifestations of primary mitochondrial disorders
-
DOI 10.1159/000105676
-
Finsterer J. Hematological manifestations of primary mitochondrial disorders. Acta Haematol 2007;118:88-98. (Pubitemid 47413792)
-
(2007)
Acta Haematologica
, vol.118
, Issue.2
, pp. 88-98
-
-
Finsterer, J.1
-
9
-
-
15944383079
-
Anemia of chronic disease: Pathophysiology and laboratory diagnosis
-
DOI 10.1532/LH96.04049
-
Thomas C, Thomas L. Anemia of chronic disease: pathophysiology and laboratory diagnosis. Lab Hematol 2005;11:14-23. (Pubitemid 40444028)
-
(2005)
Laboratory Hematology
, vol.11
, Issue.1
, pp. 14-23
-
-
Thomas, C.1
Thomas, L.2
-
10
-
-
2442691791
-
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
-
DOI 10.1086/421530
-
Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 2004;74:1303-8. (Pubitemid 38669331)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.6
, pp. 1303-1308
-
-
Bykhovskaya, Y.1
Casas, K.2
Mengesha, E.3
Inbal, A.4
Fischel-Ghodsian, N.5
-
11
-
-
28344449219
-
Thrombocytosis in iron deficiency anemia
-
DOI 10.2169/internalmedicine.44.1025
-
Dan K. Thrombocytosis in iron deficiency anemia. Intern Med 2005;44:1025-6. (Pubitemid 41715747)
-
(2005)
Internal Medicine
, vol.44
, Issue.10
, pp. 1025-1026
-
-
Dan, K.1
-
12
-
-
0033931604
-
A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy
-
DOI 10.1055/s-2000-7491
-
Rubio-Gozalbo ME, Sengers RC, Trijbels JM, Doesburg WH, Janssen AJ, Verbeek AL, Smeitink JA. A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy. Neuropediatrics 2000;31:114-21. (Pubitemid 30495434)
-
(2000)
Neuropediatrics
, vol.31
, Issue.3
, pp. 114-121
-
-
Rubio-Gozalbo, M.E.1
Sengers, R.C.A.2
Trijbels, J.M.F.3
Doesburg, W.H.4
Janssen, A.J.M.5
Verbeek, A.L.M.6
Smeitink, J.A.M.7
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