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.
Kearns-Sayre syndrome with a novel large-scale deletion: a case report.
BMC Ophthalmol
; 22(1): 35, 2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35073857
3.
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
4.
Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive.
Europace
; 23(6): 979-980, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693594
5.
Clinical manifestation of mitochondrial diseases.
Dev Period Med
; 19(4): 441-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982751
6.
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
7.
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
8.
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.
Pediatr Med Chir
; 35(3): 137-40, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23947115
9.
Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.
Pediatr Neurol
; 143: 68-76, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37018879
10.
A 7-year-old girl presenting with a Bartter-like phenotype: Answers.
Pediatr Nephrol
; 32(6): 983-985, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27534763
11.
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
12.
Torsade de pointes in Kearns-Sayre syndrome.
Pract Neurol
; 12(3): 199-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661355
13.
[Diagnosis and therapy of mitochondrial diseases]. / Mitochondrialis betegségek diagnosztikája es terápiája.
Ideggyogy Sz
; 65(7-8): 229-37, 2012 Jul 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-23074842
14.
Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.
Pan Afr Med J
; 41: 226, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35721635
15.
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
16.
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
Muscle Nerve
; 44(3): 448-51, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21996807
17.
Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report).
Pan Afr Med J
; 40: 154, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34970396
18.
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.
Clin Exp Ophthalmol
; 38(8): 812-6, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20497429
19.
Kearns-Sayre syndrome presenting as somatomedin C deficiency and complete heart block.
Turk Kardiyol Dern Ars
; 38(8): 568-71, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21248459
20.
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.
Invest Ophthalmol Vis Sci
; 61(12): 12, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33049060