Detalhe da pesquisa
1.
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
Neurol Sci
; 43(3): 2081-2084, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031921
2.
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Mol Genet Metab
; 134(4): 301-308, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862134
3.
Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.
Cardiol Young
; 28(12): 1487-1488, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30326976
4.
Scleral contact lenses for the management of complicated ptosis.
Orbit
; 37(3): 201-207, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053041
5.
Prevention of sudden death in Kearns-Sayre syndrome requires prospective studies.
Pacing Clin Electrophysiol
; 45(12): 1419-1420, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315646
6.
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review.
Andrologia
; 49(8)2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27709644
7.
Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome.
J Neuroophthalmol
; 41(1): 136-137, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32868565
8.
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Pediatr Diabetes
; 16(1): 1-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25330715
9.
Cardiac disease in Kearns-Sayre syndrome requires comprehensive management.
Cardiol Young
; 29(8): 1118-1119, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270000
10.
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome.
J Assoc Physicians India
; 62(11): 48-50, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26281482
11.
A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.
Eur J Pediatr
; 172(4): 557-61, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22875312
12.
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
BMC Pediatr
; 13: 27, 2013 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23421922
13.
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome.
Pediatr Cardiol
; 34(4): 1044-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22614904
14.
Renal involvement in mitochondrial cytopathies.
Pediatr Nephrol
; 27(4): 539-50, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21656172
15.
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome.
Indian Heart J
; 64(5): 515-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23102393
16.
Torsade de pointes in Kearns-Sayre syndrome.
Pract Neurol
; 12(3): 199-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661355
17.
[Adrenal insufficiency]. / Niedoczynnosc nadnerczy.
Wiad Lek
; 65(2): 108-23, 2012.
Artigo
em Polonês
| MEDLINE | ID: mdl-23289256
18.
Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes.
J Am Assoc Nurse Pract
; 34(8): 954-956, 2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36330549
19.
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Orphanet J Rare Dis
; 17(1): 379, 2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253820
20.
Potpourri of retinopathies in rare eye disease - A case series.
Indian J Ophthalmol
; 70(7): 2605-2609, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35791168